CeGaT GmbH

Personnel

Director: Saskia Biskup, PhD, MD, Lab Director
Phone: +49-7071-5654455

Conditions and tests

2622 conditions/phenotypes with 960 tests
Enter text to narrow down the list

2-aminoadipic 2-oxoadipic aciduria1 test
3-methylglutaconic aciduria type 13 tests
3-Methylglutaconic aciduria type 21 test
3-Methylglutaconic aciduria type 33 tests
3-methylglutaconic aciduria type 51 test
3-methylglutaconic aciduria, type VIIB1 test
3M syndrome 31 test
3MC syndrome 11 test
3MC syndrome 21 test
4p partial monosomy syndrome2 tests
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1 test
Aarskog syndrome1 test
Abetalipoproteinaemia1 test
ABri amyloidosis3 tests
Absence seizure1 test
Achondrogenesis type II2 tests
Achondrogenesis, type IA1 test
Achondrogenesis, type IB2 tests
Achondroplasia3 tests
Achromatopsia1 test
Achromatopsia 101 test
Achromatopsia 22 tests
Achromatopsia 32 tests
Achromatopsia 42 tests
Achromatopsia 51 test
Achromatopsia 61 test
Achromatopsia 72 tests
Achromatopsia 81 test
Achromatopsia 91 test
Acne inversa, familial, 31 test
Acquired hemoglobin H disease1 test
Acquired polycythemia vera1 test
Acrocallosal syndrome4 tests
Acrocephalosyndactyly type I1 test
Acrodysostosis 1 with or without hormone resistance2 tests
Acrodysostosis 2 with or without hormone resistance2 tests
Acrokeratosis verruciformis of Hopf1 test
Acromelic frontonasal dysostosis1 test
Acromesomelic dysplasia 1, Maroteaux type1 test
Acromesomelic dysplasia 2B1 test
Actin accumulation myopathy2 tests
Action myoclonus-renal failure syndrome2 tests
Acute lymphoid leukemia1 test
Acute myeloid leukemia6 tests
ADan amyloidosis3 tests
Adenylosuccinate lyase deficiency1 test
Adrenoleukodystrophy6 tests
Adult hypophosphatasia1 test
Adult neuronal ceroid lipofuscinosis1 test
Adult polyglucosan body disease2 tests
Adult-onset autosomal dominant demyelinating leukodystrophy2 tests
Adult-onset foveomacular vitelliform dystrophy2 tests
Adult-onset proximal spinal muscular atrophy, autosomal dominant6 tests
Agammaglobulinemia 2, autosomal recessive1 test
Agammaglobulinemia 3, autosomal recessive1 test
Agammaglobulinemia 4, autosomal recessive1 test
Agammaglobulinemia 5, autosomal dominant1 test
Agammaglobulinemia 6, autosomal recessive1 test
Agammaglobulinemia 7, autosomal recessive1 test
Age related macular degeneration 51 test
Age related macular degeneration 71 test
Age-related macular degeneration2 tests
Agenesis of the corpus callosum with peripheral neuropathy1 test
Aicardi Goutieres syndrome7 tests
Aicardi-Goutieres syndrome 110 tests
Aicardi-Goutieres syndrome 27 tests
Aicardi-Goutieres syndrome 36 tests
Aicardi-Goutieres syndrome 46 tests
Aicardi-Goutieres syndrome 57 tests
Aicardi-Goutieres syndrome 67 tests
Aicardi-Goutieres syndrome 71 test
Aicardi-Goutieres syndrome 81 test
Aicardi-Goutieres syndrome 91 test
Alagille syndrome due to a JAG1 point mutation2 tests
Alagille syndrome due to a NOTCH2 point mutation1 test
Albinism1 test
ALDH18A1-related de Barsy syndrome4 tests
Alexander disease9 tests
ALG1-congenital disorder of glycosylation2 tests
ALG11-congenital disorder of glycosylation2 tests
ALG12-congenital disorder of glycosylation3 tests
ALG2-congenital disorder of glycosylation3 tests
ALG3-congenital disorder of glycosylation1 test
ALG6-congenital disorder of glycosylation 1C2 tests
ALG8 congenital disorder of glycosylation3 tests
ALG9 congenital disorder of glycosylation3 tests
Allan-Herndon-Dudley syndrome1 test
Alpha thalassemia-X-linked intellectual disability syndrome1 test
Alpha-methylacyl-CoA racemase deficiency2 tests
ALS2-related disorder3 tests
Alstrom syndrome1 test
Alternating hemiplegia of childhood5 tests
Alternating hemiplegia of childhood 12 tests
Alternating hemiplegia of childhood 26 tests
Alzheimer disease2 tests
Alzheimer disease 21 test
Alzheimer disease 35 tests
Alzheimer disease 44 tests
Alzheimer disease type 12 tests
Amelocerebrohypohidrotic syndrome1 test
Amish lethal microcephaly1 test
Amyloidosis, hereditary systemic 11 test
Amyotrophic lateral sclerosis4 tests
Amyotrophic lateral sclerosis type 14 tests
Amyotrophic lateral sclerosis type 105 tests
Amyotrophic lateral sclerosis type 113 tests
Amyotrophic lateral sclerosis type 123 tests
Amyotrophic lateral sclerosis type 153 tests
Amyotrophic lateral sclerosis type 183 tests
Amyotrophic lateral sclerosis type 191 test
Amyotrophic lateral sclerosis type 2, juvenile1 test
Amyotrophic lateral sclerosis type 212 tests
Amyotrophic lateral sclerosis type 46 tests
Amyotrophic lateral sclerosis type 51 test
Amyotrophic lateral sclerosis type 66 tests
Amyotrophic lateral sclerosis type 85 tests
Amyotrophic lateral sclerosis type 93 tests
Amyotrophic neuralgia1 test
Anauxetic dysplasia 11 test
Andersen Tawil syndrome2 tests
Androgen resistance syndrome1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2 tests
Aneurysm-osteoarthritis syndrome2 tests
Angelman syndrome4 tests
Angiokeratoma corporis diffusum with arteriovenous fistulas1 test
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome1 test
Aniridia 11 test
Anophthalmia-microphthalmia syndrome2 tests
Anterior segment dysgenesis 31 test
Anterior segment dysgenesis 41 test
Antley-Bixler syndrome1 test
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Aortic aneurysm, familial thoracic 43 tests
Aortic aneurysm, familial thoracic 63 tests
Aortic aneurysm, familial thoracic 72 tests
Aortic aneurysm, familial thoracic 82 tests
Aortic valve disease 11 test
Aortic valve disease 21 test
Aplastic anemia2 tests
Aromatase deficiency1 test
Aromatase excess syndrome1 test
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma2 tests
Arrhythmogenic right ventricular cardiomyopathy1 test
Arrhythmogenic right ventricular dysplasia 11 test
Arrhythmogenic right ventricular dysplasia 101 test
Arrhythmogenic right ventricular dysplasia 111 test
Arrhythmogenic right ventricular dysplasia 21 test
Arrhythmogenic right ventricular dysplasia 31 test
Arrhythmogenic right ventricular dysplasia 41 test
Arrhythmogenic right ventricular dysplasia 52 tests
Arrhythmogenic right ventricular dysplasia 61 test
Arrhythmogenic right ventricular dysplasia 81 test
Arrhythmogenic right ventricular dysplasia 91 test
Arrhythmogenic right ventricular dysplasia, familial, 71 test
Arterial tortuosity syndrome1 test
Arteriohepatic dysplasia1 test
Arthrogryposis, distal, type 1A1 test
Arts syndrome1 test
Aspartylglucosaminuria1 test
Asperger syndrome, X-linked, susceptibility to, 11 test
Asperger syndrome, X-linked, susceptibility to, 21 test
Asphyxiating thoracic dystrophy 21 test
Asphyxiating thoracic dystrophy 32 tests
Asphyxiating thoracic dystrophy 41 test
Asphyxiating thoracic dystrophy 51 test
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1 test
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia3 tests
Ataxia-telangiectasia syndrome7 tests
Ataxia-telangiectasia-like disorder 13 tests
Ataxia-telangiectasia-like disorder 21 test
Atelosteogenesis type II1 test
Atrial fibrillation, familial, 111 test
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 31 test
Atrial fibrillation, familial, 41 test
Atrial fibrillation, familial, 71 test
Atrial fibrillation, familial, 92 tests
Atrial septal defect 11 test
Atrial septal defect 21 test
Atrial septal defect 31 test
Atrial septal defect 51 test
Atrial septal defect 72 tests
Atrial septal defect 91 test
Atrioventricular septal defect 51 test
Atrioventricular septal defect and common atrioventricular junction2 tests
Atrophia bulborum hereditaria1 test
Attenuated familial adenomatous polyposis1 test
Atypical hemolytic-uremic syndrome1 test
Atypical hemolytic-uremic syndrome with B factor anomaly2 tests
Atypical hemolytic-uremic syndrome with C3 anomaly1 test
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly2 tests
Autism, susceptibility to, X-linked 11 test
Autism, susceptibility to, X-linked 21 test
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1 test
Autoimmune interstitial lung disease-arthritis syndrome1 test
Autoimmune lymphoproliferative syndrome type 12 tests
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation2 tests
Autoinflammatory syndrome, familial, Behcet-like1 test
Autosomal dominant Alport syndrome1 test
Autosomal dominant centronuclear myopathy1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures4 tests
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures2 tests
Autosomal dominant distal renal tubular acidosis2 tests
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome3 tests
Autosomal dominant hypocalcemia 11 test
Autosomal dominant hypocalcemia 21 test
Autosomal dominant hypophosphatemic rickets2 tests
Autosomal dominant Kenny-Caffey syndrome1 test
Autosomal dominant keratitis1 test
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome2 tests
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1 test
Autosomal dominant limb-girdle muscular dystrophy type 1F1 test
Autosomal dominant limb-girdle muscular dystrophy type 1G1 test
Autosomal dominant limb-girdle muscular dystrophy type 1H1 test
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency1 test
Autosomal dominant mitochondrial myopathy with exercise intolerance1 test
Autosomal dominant nocturnal frontal lobe epilepsy1 test
Autosomal dominant nocturnal frontal lobe epilepsy 11 test
Autosomal dominant nocturnal frontal lobe epilepsy 31 test
Autosomal dominant nocturnal frontal lobe epilepsy 41 test
Autosomal dominant nocturnal frontal lobe epilepsy 51 test
Autosomal dominant nonsyndromic hearing loss1 test
Autosomal dominant nonsyndromic hearing loss 121 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 2B1 test
Autosomal dominant nonsyndromic hearing loss 3A1 test
Autosomal dominant nonsyndromic hearing loss 3B1 test
Autosomal dominant nonsyndromic hearing loss 561 test
Autosomal dominant nonsyndromic hearing loss 62 tests
Autosomal dominant optic atrophy classic form1 test
Autosomal dominant osteopetrosis 12 tests
Autosomal dominant osteopetrosis 21 test
Autosomal dominant Parkinson disease 13 tests
Autosomal dominant Parkinson disease 41 test
Autosomal dominant Parkinson disease 83 tests
Autosomal dominant polycystic kidney disease1 test
Autosomal dominant pseudohypoaldosteronism type 11 test
Autosomal dominant Robinow syndrome 11 test
Autosomal dominant vitreoretinochoroidopathy1 test
Autosomal hypohidrotic ectodermal dysplasia1 test
Autosomal recessive agammaglobulinemia 11 test
Autosomal recessive Alport syndrome1 test
Autosomal recessive ataxia due to ubiquinone deficiency4 tests
Autosomal recessive ataxia, Beauce type1 test
Autosomal recessive axonal neuropathy with neuromyotonia1 test
Autosomal recessive bestrophinopathy1 test
Autosomal recessive complex spastic paraplegia type 9B1 test
Autosomal recessive congenital ichthyosis 11 test
Autosomal recessive congenital ichthyosis 101 test
Autosomal recessive congenital ichthyosis 21 test
Autosomal recessive congenital ichthyosis 4A1 test
Autosomal recessive congenital ichthyosis 4B1 test
Autosomal recessive congenital ichthyosis 51 test
Autosomal recessive congenital ichthyosis 61 test
Autosomal recessive congenital ichthyosis 91 test
Autosomal recessive cutis laxa type 2B4 tests
Autosomal recessive distal renal tubular acidosis2 tests
Autosomal recessive distal spinal muscular atrophy 13 tests
Autosomal recessive DOPA responsive dystonia6 tests
Autosomal recessive early-onset Parkinson disease 63 tests
Autosomal recessive early-onset Parkinson disease 73 tests
Autosomal recessive hypophosphatemic bone disease2 tests
Autosomal recessive inherited pseudoxanthoma elasticum3 tests
Autosomal recessive juvenile Parkinson disease 24 tests
Autosomal recessive Kenny-Caffey syndrome1 test
Autosomal recessive limb-girdle muscular dystrophy1 test
Autosomal recessive limb-girdle muscular dystrophy type 2A3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Autosomal recessive limb-girdle muscular dystrophy type 2I1 test
Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
Autosomal recessive limb-girdle muscular dystrophy type 2K1 test
Autosomal recessive limb-girdle muscular dystrophy type 2L1 test
Autosomal recessive limb-girdle muscular dystrophy type 2M1 test
Autosomal recessive limb-girdle muscular dystrophy type 2N1 test
Autosomal recessive limb-girdle muscular dystrophy type 2O1 test
Autosomal recessive limb-girdle muscular dystrophy type 2P2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Q2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2U1 test
Autosomal recessive limb-girdle muscular dystrophy type R181 test
Autosomal recessive nonsyndromic hearing loss 1A3 tests
Autosomal recessive nonsyndromic hearing loss 1B1 test
Autosomal recessive nonsyndromic hearing loss 211 test
Autosomal recessive nonsyndromic hearing loss 311 test
Autosomal recessive nonsyndromic hearing loss 43 tests
Autosomal recessive nonsyndromic hearing loss 611 test
Autosomal recessive nonsyndromic hearing loss 91 test
Autosomal recessive omodysplasia1 test
Autosomal recessive optic atrophy, OPA7 type2 tests
Autosomal recessive osteopetrosis 11 test
Autosomal recessive osteopetrosis 21 test
Autosomal recessive osteopetrosis 41 test
Autosomal recessive osteopetrosis 51 test
Autosomal recessive osteopetrosis 61 test
Autosomal recessive osteopetrosis 71 test
Autosomal recessive Parkinson disease 147 tests
Autosomal recessive polycystic kidney disease2 tests
Autosomal recessive primary microcephaly2 tests
Autosomal recessive Robinow syndrome1 test
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency2 tests
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency1 test
Autosomal recessive spinocerebellar ataxia 103 tests
Autosomal recessive spinocerebellar ataxia 121 test
Autosomal recessive spinocerebellar ataxia 141 test
Autosomal recessive spinocerebellar ataxia 161 test
Autosomal recessive spinocerebellar ataxia 201 test
Autosomal recessive spinocerebellar ataxia 71 test
Avascular necrosis of femoral head, primary, 11 test
Axenfeld-Rieger syndrome type 12 tests
Axenfeld-Rieger syndrome type 21 test
Axenfeld-Rieger syndrome type 32 tests
Azorean disease5 tests
B-cell chronic lymphocytic leukemia1 test
Baller-Gerold syndrome1 test
Bamforth-Lazarus syndrome1 test
Bannayan-Riley-Ruvalcaba syndrome1 test
Baraitser-Winter syndrome 13 tests
Baraitser-winter syndrome 22 tests
Bardet-Biedl syndrome4 tests
Bardet-Biedl syndrome 13 tests
Bardet-Biedl syndrome 103 tests
Bardet-Biedl syndrome 113 tests
Bardet-Biedl syndrome 123 tests
Bardet-Biedl syndrome 133 tests
Bardet-Biedl syndrome 144 tests
Bardet-Biedl syndrome 153 tests
Bardet-Biedl syndrome 163 tests
Bardet-Biedl syndrome 24 tests
Bardet-Biedl syndrome 33 tests
Bardet-Biedl syndrome 43 tests
Bardet-Biedl syndrome 53 tests
Bardet-Biedl syndrome 63 tests
Bardet-Biedl syndrome 73 tests
Bardet-Biedl syndrome 84 tests
Bardet-Biedl syndrome 93 tests
Bartter disease type 31 test
Bartter disease type 4A1 test
Bartter disease type 4B1 test
Basal cell carcinoma, susceptibility to, 12 tests
Basal ganglia calcification, idiopathic, 41 test
Basal ganglia calcification, idiopathic, 61 test
Basal laminar drusen1 test
Batten-Turner congenital myopathy1 test
Beaded hair1 test
Beare-Stevenson cutis gyrata syndrome1 test
Becker muscular dystrophy2 tests
Beckwith-Wiedemann syndrome3 tests
Benign familial hematuria1 test
Benign hereditary chorea2 tests
Benign recurrent intrahepatic cholestasis type 11 test
Bent bone dysplasia syndrome 12 tests
Bernard Soulier syndrome1 test
beta Thalassemia1 test
Beta-thalassemia-X-linked thrombocytopenia syndrome1 test
Bethlem myopathy 1A1 test
Bifunctional peroxisomal enzyme deficiency1 test
Biotin-responsive basal ganglia disease1 test
Biotinidase deficiency2 tests
Blau syndrome3 tests
Blood group, I system2 tests
Bloom syndrome3 tests
BNAR syndrome1 test
Bohring-Opitz syndrome1 test
Bone Paget disease1 test
Boomerang dysplasia1 test
Borjeson-Forssman-Lehmann syndrome1 test
Bothnia retinal dystrophy2 tests
Brachydactyly type A11 test
Brachydactyly type B11 test
Brachydactyly type B21 test
Brachydactyly type C1 test
Brachydactyly type D2 tests
Brachydactyly type E12 tests
Brachydactyly type E21 test
Brachydactyly-syndactyly syndrome1 test
Brachyolmia - Maroteaux type3 tests
Brachyrachia (short spine dysplasia)3 tests
Brain small vessel disease 1 with or without ocular anomalies3 tests
Brain-lung-thyroid syndrome2 tests
Branchiootic syndrome 31 test
Branchiootorenal Spectrum Disorders1 test
Branchiootorenal syndrome 11 test
Branchiootorenal syndrome 21 test
Breast-ovarian cancer, familial, susceptibility to, 12 tests
Breast-ovarian cancer, familial, susceptibility to, 22 tests
Breast-ovarian cancer, familial, susceptibility to, 32 tests
Breast-ovarian cancer, familial, susceptibility to, 42 tests
Brittle cornea syndrome 12 tests
Brittle cornea syndrome 22 tests
Brody myopathy1 test
Bronchiectasis with or without elevated sweat chloride 12 tests
Bronchiectasis with or without elevated sweat chloride 31 test
Bruck syndrome 11 test
Bruck syndrome 21 test
Brugada syndrome1 test
Brugada syndrome 11 test
Brugada syndrome 21 test
Brugada syndrome 31 test
Brugada syndrome 41 test
Brugada syndrome 52 tests
Brugada syndrome 62 tests
Brugada syndrome 71 test
Brugada syndrome 82 tests
Brugada syndrome 91 test
Budd-Chiari syndrome1 test
C syndrome1 test
C1 inhibitor deficiency1 test
C1Q deficiency3 tests
Café-au-lait macules with pulmonary stenosis1 test
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
Camptomelic dysplasia1 test
Candidiasis, familial, 61 test
Candidiasis, familial, 81 test
Capillary infantile hemangioma1 test
Capillary malformation1 test
Capillary malformation-arteriovenous malformation 14 tests
CARASIL syndrome2 tests
Carcinoid tumor of intestine1 test
Carcinoma of colon4 tests
Carcinoma of pancreas3 tests
Cardiac valvular dysplasia, X-linked1 test
Cardio-facio-cutaneous syndrome1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 12 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21 test
Cardiofaciocutaneous syndrome 13 tests
Cardiofaciocutaneous syndrome 21 test
Cardiomyopathy, familial restrictive, 31 test
Cardiomyopathy, hypertrophic, midventricular, digenic1 test
Cardiomyopathy, mitochondrial1 test
Cardiomyopathy-hypotonia-lactic acidosis syndrome2 tests
Carney complex, type 11 test
Carney-Stratakis syndrome2 tests
Carnitine palmitoyl transferase II deficiency, myopathic form1 test
Carnitine palmitoyl transferase II deficiency, neonatal form1 test
Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
Carpal tunnel syndrome1 test
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders1 test
Cataract 1 multiple types1 test
Cataract 12 multiple types2 tests
Cataract 14 multiple types1 test
Cataract 16 multiple types1 test
Cataract 17 multiple types1 test
Cataract 181 test
Cataract 22 multiple types1 test
Cataract 361 test
Cataract 381 test
Cataract 401 test
Cataract 411 test
Cataract 46 juvenile-onset1 test
Cataract 5 multiple types2 tests
Cataract 6 multiple types1 test
Cataract 9 multiple types1 test
Cataract, Autosomal Dominant Congenital 41 test
Cataract, cortical pulverulent, late-onset1 test
Cataract, polymorphic and lamellar1 test
Cataracts, Autosomal Dominant1 test
Catecholaminergic polymorphic ventricular tachycardia 11 test
Catecholaminergic polymorphic ventricular tachycardia 21 test
Catecholaminergic polymorphic ventricular tachycardia 41 test
Catecholaminergic polymorphic ventricular tachycardia 51 test
Cayman type cerebellar ataxia1 test
CBL-related disorder3 tests
CEDNIK syndrome2 tests
Cenani-Lenz syndactyly syndrome1 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 11 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 21 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41 test
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1 test
Cerebral amyloid angiopathy, APP-related1 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 15 tests
Cerebral cavernous malformation1 test
Cerebral folate transport deficiency6 tests
Cerebrooculofacioskeletal syndrome 12 tests
Cerebrooculofacioskeletal syndrome 21 test
Cerebrooculofacioskeletal syndrome 41 test
Cerebroretinal microangiopathy with calcifications and cysts 12 tests
Cernunnos-XLF deficiency1 test
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)3 tests
Ceroid lipofuscinosis, neuronal, 6A2 tests
Cervical cancer1 test
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1 test
Char syndrome1 test
Charcot-Marie-Tooth disease1 test
Charcot-Marie-Tooth disease axonal type 2C4 tests
Charcot-Marie-Tooth disease axonal type 2F3 tests
Charcot-Marie-Tooth disease axonal type 2K1 test
Charcot-Marie-Tooth disease axonal type 2L3 tests
Charcot-Marie-Tooth disease axonal type 2N2 tests
Charcot-Marie-Tooth disease axonal type 2O2 tests
Charcot-Marie-Tooth disease axonal type 2P1 test
Charcot-Marie-Tooth disease axonal type 2Q1 test
Charcot-Marie-Tooth disease axonal type 2V1 test
Charcot-Marie-Tooth disease axonal type 2X1 test
Charcot-Marie-Tooth disease dominant intermediate B2 tests
Charcot-Marie-Tooth disease dominant intermediate C1 test
Charcot-Marie-Tooth disease dominant intermediate D2 tests
Charcot-Marie-Tooth disease recessive intermediate A2 tests
Charcot-Marie-Tooth disease recessive intermediate B1 test
Charcot-Marie-Tooth disease recessive intermediate C3 tests
Charcot-Marie-Tooth disease type 1B2 tests
Charcot-Marie-Tooth disease type 1C1 test
Charcot-Marie-Tooth disease type 1D2 tests
Charcot-Marie-Tooth disease type 1E2 tests
Charcot-Marie-Tooth disease type 1F1 test
Charcot-Marie-Tooth disease type 23 tests
Charcot-Marie-Tooth disease type 2A11 test
Charcot-Marie-Tooth disease type 2A22 tests
Charcot-Marie-Tooth disease type 2B1 test
Charcot-Marie-Tooth disease type 2B11 test
Charcot-Marie-Tooth disease type 2B21 test
Charcot-Marie-Tooth disease type 2D4 tests
Charcot-Marie-Tooth disease type 2E1 test
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease type 2J1 test
Charcot-Marie-Tooth disease type 44 tests
Charcot-Marie-Tooth disease type 4A2 tests
Charcot-Marie-Tooth disease type 4B11 test
Charcot-Marie-Tooth disease type 4B21 test
Charcot-Marie-Tooth disease type 4B31 test
Charcot-Marie-Tooth disease type 4C1 test
Charcot-Marie-Tooth disease type 4D1 test
Charcot-Marie-Tooth disease type 4E3 tests
Charcot-Marie-Tooth disease type 4F1 test
Charcot-Marie-Tooth disease type 4G1 test
Charcot-Marie-Tooth disease type 4H1 test
Charcot-Marie-Tooth disease type 4J4 tests
Charcot-Marie-Tooth disease X-linked dominant 13 tests
Charcot-Marie-Tooth disease X-linked recessive 21 test
Charcot-Marie-Tooth disease X-linked recessive 31 test
Charcot-Marie-Tooth disease X-linked recessive 41 test
Charcot-Marie-Tooth disease X-linked recessive 52 tests
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
Charcot-Marie-Tooth disease, intermediate type1 test
Charcot-Marie-Tooth disease, type 2A1 test
Charcot-Marie-Tooth disease, type I1 test
Charcot-Marie-Tooth disease, type IA2 tests
Charcot-Marie-Tooth Neuropathy Type 2H/2K1 test
Charcot-Marie-Tooth Neuropathy Type 2I/2J1 test
Charcot-Marie-Tooth Neuropathy X1 test
CHARGE syndrome4 tests
Charlevoix-Saguenay spastic ataxia3 tests
Chilblain lupus 12 tests
Chilblain lupus 23 tests
Child syndrome1 test
Childhood hypophosphatasia1 test
Childhood Myocerebrohepatopathy Spectrum Disorders4 tests
Childhood onset GLUT1 deficiency syndrome 23 tests
Cholestanol storage disease6 tests
Cholestasis, intrahepatic, of pregnancy, 11 test
Cholestasis, intrahepatic, of pregnancy, 31 test
Chondrocalcinosis 21 test
Chondrodysplasia Blomstrand type2 tests
Chondrodysplasia punctata 2 X-linked dominant2 tests
Chondrodysplasia with joint dislocations, gPAPP type1 test
Chondrosarcoma1 test
Chorea-acanthocytosis5 tests
Choroidal dystrophy, central areolar 22 tests
Choroideremia2 tests
CHRNA1-Related Congenital Myasthenic Syndrome1 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chudley-McCullough syndrome1 test
Chuvash polycythemia1 test
Chédiak-Higashi syndrome4 tests
Classic dopamine transporter deficiency syndrome3 tests
Cleidocranial dysostosis2 tests
CLN13 Disease1 test
CLN14 Disease1 test
CLOVES syndrome1 test
Cobblestone lissencephaly2 tests
Cockayne syndrome2 tests
Cockayne syndrome type 13 tests
Cockayne syndrome type 23 tests
Coenzyme Q10 deficiency2 tests
Coenzyme Q10 deficiency, primary, 13 tests
Coenzyme Q10 deficiency, primary, 33 tests
COG6-congenital disorder of glycosylation1 test
COG7 congenital disorder of glycosylation1 test
Cognitive impairment with or without cerebellar ataxia1 test
Cohen syndrome3 tests
Collagen Type VI-Related Autosomal Dominant Limb-girdle Muscular Dystrophy1 test
Coloboma of optic nerve1 test
Colobomatous microphthalmia-rhizomelic dysplasia syndrome1 test
Colorectal cancer, hereditary nonpolyposis, type 21 test
Colorectal cancer, hereditary nonpolyposis, type 71 test
Colorectal cancer, susceptibility to, 121 test
Combined immunodeficiency due to DOCK8 deficiency2 tests
Combined immunodeficiency due to ORAI1 deficiency1 test
Combined molybdoflavoprotein enzyme deficiency2 tests
Combined oxidative phosphorylation defect type 142 tests
Combined oxidative phosphorylation defect type 22 tests
Combined oxidative phosphorylation defect type 42 tests
Combined oxidative phosphorylation defect type 74 tests
Combined oxidative phosphorylation defect type 84 tests
Combined PSAP deficiency2 tests
Complement component 3 deficiency1 test
Complex cortical dysplasia with other brain malformations 15 tests
Complex cortical dysplasia with other brain malformations 25 tests
Complex cortical dysplasia with other brain malformations 34 tests
Complex cortical dysplasia with other brain malformations 44 tests
Complex cortical dysplasia with other brain malformations 73 tests
Compton-North congenital myopathy1 test
Cone dystrophy 31 test
Cone dystrophy 42 tests
Cone dystrophy with supernormal rod response1 test
Cone-rod dystrophy1 test
Cone-rod dystrophy 11 test
Cone-rod dystrophy 111 test
Cone-rod dystrophy 122 tests
Cone-rod dystrophy 131 test
Cone-rod dystrophy 152 tests
Cone-rod dystrophy 161 test
Cone-rod dystrophy 22 tests
Cone-rod dystrophy 32 tests
Cone-rod dystrophy 51 test
Cone-rod dystrophy 62 tests
Cone-rod dystrophy 71 test
Cone-rod dystrophy 91 test
Cone-rod synaptic disorder, congenital nonprogressive2 tests
Congenital afibrinogenemia1 test
Congenital amegakaryocytic thrombocytopenia1 test
Congenital aniridia1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
Congenital bile acid synthesis defect 11 test
Congenital bile acid synthesis defect 33 tests
Congenital bile acid synthesis defect 41 test
Congenital brain dysgenesis due to glutamine synthetase deficiency1 test
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome2 tests
Congenital defect of folate absorption3 tests
Congenital disorder of deglycosylation2 tests
Congenital disorder of glycosylation2 tests
Congenital disorder of glycosylation type 1E2 tests
Congenital disorder of glycosylation type Ir2 tests
Congenital dyserythropoietic anemia, type I1 test
Congenital dyserythropoietic anemia, type II1 test
Congenital generalized lipodystrophy2 tests
Congenital generalized lipodystrophy type 24 tests
Congenital generalized lipodystrophy type 41 test
Congenital heart defects, multiple types, 61 test
Congenital hypotrichosis with juvenile macular dystrophy1 test
Congenital ichthyosis of skin1 test
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome4 tests
Congenital long QT syndrome1 test
Congenital muscular dystrophy1 test
Congenital muscular dystrophy due to integrin alpha-7 deficiency1 test
Congenital muscular dystrophy due to LMNA mutation1 test
Congenital muscular dystrophy with intellectual disability and severe epilepsy2 tests
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital myasthenic syndrome1 test
Congenital myasthenic syndrome 102 tests
Congenital myasthenic syndrome 132 tests
Congenital myasthenic syndrome 151 test
Congenital myasthenic syndrome 162 tests
Congenital myasthenic syndrome 4C3 tests
Congenital myasthenic syndrome 51 test
Congenital myasthenic syndrome 91 test
Congenital myopathy1 test
Congenital myopathy 232 tests
Congenital myopathy 4B, autosomal recessive1 test
Congenital myopathy with fiber type disproportion2 tests
Congenital myopathy with internal nuclei and atypical cores1 test
Congenital myotonia, autosomal dominant form1 test
Congenital myotonia, autosomal recessive form1 test
Congenital neutropenia-myelofibrosis-nephromegaly syndrome1 test
Congenital ocular coloboma1 test
Congenital plasminogen activator inhibitor type 1 deficiency1 test
Congenital prothrombin deficiency1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
Congenital stationary night blindness1 test
Congenital stationary night blindness 1A1 test
Congenital stationary night blindness 1B1 test
Congenital stationary night blindness 1C1 test
Congenital stationary night blindness 2A1 test
Congenital stationary night blindness autosomal dominant 12 tests
Congenital stationary night blindness autosomal dominant 21 test
Congenital stationary night blindness autosomal dominant 31 test
Conotruncal anomaly face syndrome1 test
Conotruncal heart malformations2 tests
Corneal dystrophy, Meesmann, 11 test
Cornelia de Lange syndrome 11 test
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 41 test
Cornelia de Lange syndrome 51 test
Corpus callosum agenesis-abnormal genitalia syndrome1 test
Cortical dysplasia-focal epilepsy syndrome2 tests
Cortisone reductase deficiency 21 test
Costello syndrome4 tests
Cowden syndrome2 tests
Cowden syndrome 11 test
Cranioectodermal dysplasia3 tests
Cranioectodermal dysplasia 14 tests
Cranioectodermal dysplasia 24 tests
Cranioectodermal dysplasia 33 tests
Cranioectodermal dysplasia 42 tests
Craniofrontonasal syndrome2 tests
Craniometaphyseal dysplasia, autosomal dominant1 test
Craniometaphyseal dysplasia, autosomal recessive2 tests
Craniosynostosis 21 test
Craniosynostosis 61 test
Craniosynostosis and dental anomalies1 test
Craniosynostosis syndrome1 test
Creatine transporter deficiency1 test
Crouzon syndrome1 test
Crouzon syndrome-acanthosis nigricans syndrome1 test
Cushing syndrome1 test
Cutis laxa with osteodystrophy4 tests
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies2 tests
Cutis laxa, autosomal dominant 12 tests
Cutis laxa, autosomal dominant 31 test
Cutis laxa, autosomal recessive, type 1B2 tests
Cutis laxa, X-linked6 tests
Cyclical neutropenia2 tests
Cystic fibrosis1 test
Cystic leukoencephalopathy without megalencephaly4 tests
Cystinuria1 test
Dandy-Walker syndrome1 test
Danon disease3 tests
DE SANCTIS-CACCHIONE SYNDROME1 test
Deafness dystonia syndrome3 tests
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome3 tests
Deafness-lymphedema-leukemia syndrome2 tests
Deficiency of alpha-mannosidase1 test
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of ferroxidase1 test
Deficiency of guanidinoacetate methyltransferase1 test
Deficiency of hyaluronoglucosaminidase2 tests
Dejerine-Sottas disease3 tests
Dent disease1 test
Dent disease type 21 test
Dentatorubral-pallidoluysian atrophy1 test
Desbuquois dysplasia 12 tests
Desbuquois dysplasia 22 tests
Desmin-related myofibrillar myopathy3 tests
Desmosterolosis3 tests
Developmental and epileptic encephalopathy 941 test
Developmental and epileptic encephalopathy, 12 tests
Developmental and epileptic encephalopathy, 112 tests
Developmental and epileptic encephalopathy, 122 tests
Developmental and epileptic encephalopathy, 132 tests
Developmental and epileptic encephalopathy, 142 tests
Developmental and epileptic encephalopathy, 152 tests
Developmental and epileptic encephalopathy, 161 test
Developmental and epileptic encephalopathy, 172 tests
Developmental and epileptic encephalopathy, 182 tests
Developmental and epileptic encephalopathy, 192 tests
Developmental and epileptic encephalopathy, 22 tests
Developmental and epileptic encephalopathy, 211 test
Developmental and epileptic encephalopathy, 231 test
Developmental and epileptic encephalopathy, 241 test
Developmental and epileptic encephalopathy, 341 test
Developmental and epileptic encephalopathy, 42 tests
Developmental and epileptic encephalopathy, 52 tests
Developmental and epileptic encephalopathy, 71 test
Developmental and epileptic encephalopathy, 83 tests
Developmental and epileptic encephalopathy, 92 tests
Diabetes insipidus, nephrogenic, autosomal2 tests
Diabetes insipidus, nephrogenic, X-linked1 test
Diamond-Blackfan anemia 11 test
Diaphanospondylodysostosis1 test
Diaphragmatic hernia 31 test
Diaphyseal dysplasia1 test
Diaphyseal medullary stenosis-bone malignancy syndrome1 test
Diastrophic dysplasia1 test
DiGeorge syndrome3 tests
Digital Arthropathy-Brachydactyly2 tests
Dihydropteridine reductase deficiency3 tests
Dilated cardiomyopathy 1D2 tests
Dilated cardiomyopathy 1I1 test
Dilated cardiomyopathy 1S1 test
Dilated cardiomyopathy 1U5 tests
Dilated cardiomyopathy 1V4 tests
Dilated cardiomyopathy 3B1 test
Disorder of cardiovascular system2 tests
Distal arthrogryposis type 2B12 tests
Distal monosomy 10p1 test
Distal myopathy with anterior tibial onset1 test
Distal myopathy with posterior leg and anterior hand involvement1 test
Distal myopathy, Tateyama type1 test
DK1-congenital disorder of glycosylation2 tests
DNA ligase IV deficiency2 tests
Dominant Dystrophic Epidermolysis Bullosa1 test
Dopa-responsive dystonia due to sepiapterin reductase deficiency7 tests
Double outlet right ventricle1 test
Dowling-Degos disease 11 test
Down syndrome2 tests
Doyne honeycomb retinal dystrophy1 test
DPAGT1-congenital disorder of glycosylation3 tests
DPM3-congenital disorder of glycosylation2 tests
Duane retraction syndrome 21 test
Duane-radial ray syndrome2 tests
Duchenne muscular dystrophy2 tests
Duffy Blood group system1 test
Dysequilibrium syndrome1 test
Dyskeratosis congenita2 tests
Dyskeratosis congenita, autosomal dominant 13 tests
Dyskeratosis congenita, autosomal recessive 12 tests
Dyskeratosis congenita, autosomal recessive 22 tests
Dyskeratosis congenita, autosomal recessive 32 tests
Dyskeratosis congenita, autosomal recessive 52 tests
Dyskeratosis congenita, X-linked5 tests
Dyskinesia with orofacial involvement, autosomal dominant1 test
Dystonia 126 tests
Dystonia 163 tests
Dystonia 231 test
Dystonia 241 test
Dystonia 271 test
Dystonia 56 tests
Dystonia 93 tests
Early infantile epileptic encephalopathy with suppression bursts1 test
Early myoclonic encephalopathy2 tests
Early-onset autosomal dominant Alzheimer disease3 tests
Early-onset generalized limb-onset dystonia3 tests
Early-onset myopathy with fatal cardiomyopathy1 test
EAST syndrome2 tests
Ectodermal dysplasia and immunodeficiency 12 tests
Ectodermal dysplasia and immunodeficiency 21 test
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 11 test
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31 test
EEM syndrome3 tests
Ehlers-Danlos syndrome due to tenascin-X deficiency2 tests
Ehlers-Danlos syndrome progeroid type3 tests
Ehlers-Danlos syndrome type 7A2 tests
Ehlers-Danlos syndrome type 7B2 tests
Ehlers-Danlos syndrome, classic type2 tests
Ehlers-Danlos syndrome, dermatosparaxis type2 tests
Ehlers-Danlos syndrome, kyphoscoliotic type 12 tests
Ehlers-Danlos syndrome, kyphoscoliotic type, 23 tests
Ehlers-Danlos syndrome, musculocontractural type2 tests
Ehlers-Danlos syndrome, spondylocheirodysplastic type3 tests
Ehlers-Danlos syndrome, spondylodysplastic type, 22 tests
Ehlers-Danlos syndrome, type 32 tests
Ehlers-Danlos syndrome, type 42 tests
Eichsfeld type congenital muscular dystrophy2 tests
Eiken syndrome1 test
Elevated circulating glutaric acid concentration2 tests
Ellis-van Creveld syndrome1 test
Emery-Dreifuss muscular dystrophy1 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant2 tests
Encephalopathy due to GLUT1 deficiency4 tests
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11 test
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome3 tests
Endometrial carcinoma1 test
Enhanced S-cone syndrome1 test
Epidermal nevus1 test
Epidermodysplasia verruciformis, susceptibility to, 11 test
Epidermolysis bullosa dystrophica1 test
Epidermolysis bullosa simplex1 test
Epidermolysis bullosa simplex 1A, generalized severe2 tests
Epidermolysis bullosa simplex 1C, localized2 tests
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive1 test
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency1 test
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1 test
Epidermolysis bullosa simplex 5B, with muscular dystrophy4 tests
Epidermolysis bullosa simplex 5C, with pyloric atresia2 tests
Epidermolysis bullosa simplex 7, with nephropathy and deafness1 test
Epidermolysis bullosa simplex due to plakophilin deficiency2 tests
Epidermolysis bullosa simplex with migratory circinate erythema2 tests
Epidermolysis bullosa simplex with mottled pigmentation2 tests
Epidermolysis bullosa simplex, Koebner type2 tests
Epidermolysis bullosa simplex, Ogna type2 tests
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome1 test
Epidermolytic ichthyosis1 test
Epilepsy, childhood absence 21 test
Epilepsy, childhood absence 41 test
Epilepsy, childhood absence, susceptibility to, 52 tests
Epilepsy, childhood absence, susceptibility to, 61 test
Epilepsy, familial focal, with variable foci 11 test
Epilepsy, familial temporal lobe, 12 tests
Epilepsy, idiopathic generalized, susceptibility to, 111 test
Epilepsy, idiopathic generalized, susceptibility to, 141 test
Epilepsy, idiopathic generalized, susceptibility to, 81 test
Epilepsy, idiopathic generalized, susceptibility to, 91 test
EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 22 tests
Epilepsy, progressive myoclonic, 1B4 tests
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1 test
Epiphyseal dysplasia, multiple, 22 tests
Epiphyseal dysplasia, multiple, 32 tests
Epiphyseal dysplasia, multiple, 62 tests
Episodic ataxia type 15 tests
Episodic Ataxia Type 101 test
Episodic Ataxia Type 111 test
Episodic Ataxia Type 121 test
Episodic ataxia type 24 tests
Episodic ataxia type 54 tests
Episodic ataxia type 64 tests
Episodic ataxia type 71 test
Episodic ataxia type 81 test
Episodic ataxia, type 91 test
Episodic kinesigenic dyskinesia 14 tests
Episodic pain syndrome, familial, 21 test
ERCC1-Related Xeroderma Pigmentosum3 tests
Erythrokeratodermia variabilis et progressiva 11 test
Ethylmalonic encephalopathy1 test
Exostoses, multiple, type 21 test
Exudative vitreoretinopathy 12 tests
Exudative vitreoretinopathy 2, X-linked2 tests
Exudative vitreoretinopathy 42 tests
Exudative vitreoretinopathy 52 tests
Fabry disease3 tests
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome2 tests
Facioscapulohumeral muscular dystrophy 11 test
Facioscapulohumeral muscular dystrophy 21 test
Factor H deficiency1 test
Factor V deficiency2 tests
Factor X deficiency1 test
Factor XII deficiency disease2 tests
Factor XIII, A subunit, deficiency of1 test
FADD-related immunodeficiency1 test
Familial adenomatous polyposis 21 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial atrial fibrillation1 test
Familial atrial myxoma1 test
Familial atrioventricular septal defect1 test
Familial benign flecked retina1 test
Familial benign pemphigus1 test
Familial cancer of breast3 tests
Familial cold autoinflammatory syndrome 13 tests
Familial cold autoinflammatory syndrome 21 test
Familial cold autoinflammatory syndrome 33 tests
Familial cold autoinflammatory syndrome 41 test
Familial colorectal cancer1 test
Familial digital arthropathy-brachydactyly2 tests
Familial dysautonomia1 test
Familial dysfibrinogenemia1 test
Familial Episodic Pain Syndrome 41 test
Familial Episodic Pain Syndrome 51 test
Familial Episodic Pain Syndrome 61 test
Familial Episodic Pain Syndrome 71 test
Familial Episodic Pain Syndrome 81 test
Familial episodic pain syndrome with predominantly lower limb involvement1 test
Familial gestational hyperthyroidism1 test
Familial hemiplegic migraine1 test
Familial hemophagocytic lymphohistiocytosis 22 tests
Familial hemophagocytic lymphohistiocytosis 31 test
Familial hemophagocytic lymphohistiocytosis type 12 tests
Familial hyperaldosteronism type III1 test
Familial hyperkalemic periodic paralysis3 tests
Familial hyperthyroidism due to mutations in TSH receptor1 test
Familial hypocalciuric hypercalcemia 12 tests
Familial hypocalciuric hypercalcemia 21 test
Familial hypocalciuric hypercalcemia 32 tests
Familial hypokalemia-hypomagnesemia1 test
Familial hypoparathyroidism1 test
Familial idiopathic steroid-resistant nephrotic syndrome1 test
Familial infantile myasthenia1 test
Familial isolated arrhythmogenic right ventricular dysplasia1 test
Familial isolated congenital asplenia1 test
Familial isolated deficiency of vitamin E1 test
Familial Mediterranean fever2 tests
Familial Mediterranean fever, autosomal dominant1 test
Familial meningioma2 tests
Familial multiple polyposis syndrome1 test
Familial normokalemic periodic paralysis1 test
Familial ovarian carcinoma1 test
Familial pancreatic carcinoma1 test
Familial periodic paralysis2 tests
Familial porencephaly2 tests
Familial renal glucosuria1 test
Familial scaphocephaly syndrome, McGillivray type1 test
Familial steroid-resistant nephrotic syndrome with sensorineural deafness2 tests
Familial temporal lobe epilepsy 51 test
Familial thoracic aortic aneurysm and aortic dissection2 tests
Familial type 5 hyperlipoproteinemia1 test
Familial visceral amyloidosis, Ostertag type3 tests
Familial X-linked hypophosphatemic vitamin D refractory rickets3 tests
Fanconi anemia1 test
Fanconi anemia complementation group A2 tests
Fanconi anemia complementation group B1 test
Fanconi anemia complementation group C2 tests
Fanconi anemia complementation group D11 test
Fanconi anemia complementation group D21 test
Fanconi anemia complementation group E1 test
Fanconi anemia complementation group F1 test
Fanconi anemia complementation group G1 test
Fanconi anemia complementation group I1 test
Fanconi anemia complementation group J1 test
Fanconi anemia complementation group L1 test
Fanconi anemia complementation group N2 tests
Fanconi anemia complementation group O1 test
Fanconi anemia complementation group P1 test
Fanconi anemia complementation group Q3 tests
Fanconi anemia, complementation group M1 test
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1 test
Fanconi-Bickel syndrome1 test
Farber lipogranulomatosis4 tests
Fatal familial insomnia4 tests
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 32 tests
Febrile seizures, familial, 82 tests
Feingold syndrome type 11 test
Fetal akinesia deformation sequence 13 tests
FG syndrome 11 test
FG syndrome 21 test
FGFR2-related craniosynostosis1 test
Fibrochondrogenesis 11 test
Fibrochondrogenesis 21 test
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1 test
Fibrous dysplasia of jaw1 test
Finnish type amyloidosis1 test
Floating-Harbor syndrome1 test
Focal epilepsy1 test
Focal facial dermal dysplasia type III1 test
Focal segmental glomerulosclerosis1 test
Focal segmental glomerulosclerosis 11 test
Focal segmental glomerulosclerosis 21 test
Focal segmental glomerulosclerosis 31 test
Focal segmental glomerulosclerosis 51 test
Focal segmental glomerulosclerosis 61 test
Focal segmental glomerulosclerosis 71 test
Focal segmental glomerulosclerosis 81 test
Focal segmental glomerulosclerosis 91 test
Foveal hypoplasia 13 tests
Fowler syndrome1 test
FOXE3-Related Cataracts, Autosomal Dominant1 test
Frank-Ter Haar syndrome1 test
Fraser syndrome 11 test
Freeman-Sheldon syndrome1 test
Friedreich ataxia1 test
Friedreich ataxia 11 test
Frontometaphyseal dysplasia 11 test
Frontonasal dysplasia with alopecia and genital anomaly1 test
Frontotemporal dementia7 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 15 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 24 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 65 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 75 tests
Fuhrmann syndrome2 tests
Galactosylceramide beta-galactosidase deficiency8 tests
Galloway-Mowat syndrome 11 test
Gamma-glutamylcysteine synthetase deficiency1 test
GARS-Associated Axonal Neuropathy2 tests
Gastrointestinal stromal tumor2 tests
Gaucher disease5 tests
Gaucher disease due to saposin C deficiency2 tests
Gaucher disease perinatal lethal1 test
Gaucher disease type I1 test
Gaucher disease type II1 test
Gaucher disease type III1 test
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome1 test
Gaze palsy, familial horizontal, with progressive scoliosis 11 test
Geleophysic dysplasia 11 test
Geleophysic dysplasia 21 test
Generalized epilepsy with febrile seizures plus type 51 test
Generalized epilepsy with febrile seizures plus, type 12 tests
Generalized epilepsy with febrile seizures plus, type 22 tests
Generalized epilepsy with febrile seizures plus, type 71 test
Generalized epilepsy-paroxysmal dyskinesia syndrome5 tests
Generalized juvenile polyposis/juvenile polyposis coli1 test
Generalized pustular psoriasis2 tests
Germ cell tumor1 test
Geroderma osteodysplastica1 test
Gerstmann-Straussler-Scheinker syndrome4 tests
Ghosal hematodiaphyseal dysplasia1 test
Giant axonal neuropathy 11 test
Gilbert syndrome1 test
Gillespie syndrome3 tests
GJB3-Related Erythrokeratodermia Variabilis1 test
GJB4-Related Erythrokeratodermia Variabilis1 test
GJC2-related disorder2 tests
Glaucoma 1, open angle, E2 tests
GLB1-related disorder3 tests
Glucocorticoid deficiency with achalasia1 test
Glucose-6-phosphate transport defect1 test
Glutaric aciduria, type 14 tests
Glutaryl-CoA oxidase deficiency1 test
Glutathione synthetase deficiency without 5-oxoprolinuria1 test
Glycogen phosphorylase kinase deficiency1 test
Glycogen storage disease1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA4 tests
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency1 test
Glycogen storage disease due to muscle and heart glycogen synthase deficiency1 test
Glycogen storage disease due to muscle beta-enolase deficiency1 test
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
Glycogen storage disease IXa11 test
Glycogen storage disease IXb1 test
Glycogen storage disease IXc1 test
Glycogen storage disease IXd1 test
Glycogen storage disease type III2 tests
Glycogen storage disease type X2 tests
Glycogen storage disease XV1 test
Glycogen storage disease, type I1 test
Glycogen storage disease, type II2 tests
Glycogen storage disease, type IV3 tests
Glycogen storage disease, type V2 tests
Glycogen storage disease, type VI1 test
Glycogen storage disease, type VII1 test
Glycogen storage disorder due to hepatic glycogen synthase deficiency1 test
GM1 gangliosidosis2 tests
GM1 gangliosidosis type 23 tests
GM1 gangliosidosis type 33 tests
Gnathodiaphyseal dysplasia1 test
GNE myopathy3 tests
GNPTG-mucolipidosis1 test
Gonadotropin-independent familial sexual precocity1 test
Gorlin syndrome3 tests
Granulomatous disease, chronic, X-linked1 test
Grebe syndrome2 tests
Greenberg dysplasia2 tests
Greig cephalopolysyndactyly syndrome1 test
Griscelli syndrome type 13 tests
Griscelli syndrome type 23 tests
Griscelli syndrome type 31 test
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions4 tests
GTDC2-Related Muscle Diseases1 test
GTP cyclohydrolase I deficiency4 tests
Guillain-Barre syndrome, familial1 test
H syndrome1 test
Hb SS disease1 test
Hearing loss, X-linked 11 test
Hearing Loss/Deafness3 tests
Hemochromatosis type 13 tests
Hemochromatosis type 2A2 tests
Hemochromatosis type 2B1 test
Hemochromatosis type 31 test
Hemochromatosis type 42 tests
Hemolytic anemia due to adenylate kinase deficiency1 test
Hemolytic uremic syndrome, atypical, susceptibility to, 13 tests
Hemorrhage, intracerebral, susceptibility to1 test
Hennekam lymphangiectasia-lymphedema syndrome 11 test
Hepatic adenomas, familial1 test
Hepatic veno-occlusive disease-immunodeficiency syndrome1 test
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 12 tests
Hereditary angioedema type 12 tests
Hereditary angioedema type 32 tests
Hereditary angioneurotic edema1 test
Hereditary antithrombin deficiency2 tests
Hereditary breast ovarian cancer syndrome2 tests
Hereditary diffuse gastric adenocarcinoma1 test
Hereditary diffuse leukoencephalopathy with spheroids6 tests
Hereditary disease2 tests
Hereditary factor VIII deficiency disease1 test
Hereditary factor XI deficiency disease1 test
Hereditary fructosuria1 test
Hereditary hyperferritinemia with congenital cataracts7 tests
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary liability to pressure palsies1 test
Hereditary lymphedema type I2 tests
Hereditary motor and sensory neuropathy with optic atrophy2 tests
Hereditary myopathy with lactic acidosis due to ISCU deficiency2 tests
Hereditary neuroendocrine tumor of small intestine1 test
Hereditary nonpolyposis colon cancer1 test
Hereditary pancreatitis4 tests
Hereditary pheochromocytoma-paraganglioma1 test
Hereditary sensory and autonomic neuropathy type 12 tests
Hereditary sensory and autonomic neuropathy type 21 test
Hereditary sensory and autonomic neuropathy type 61 test
Hereditary sensory and autonomic neuropathy type 71 test
Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
Hereditary sensory neuropathy-deafness-dementia syndrome1 test
Hereditary spastic paraplegia1 test
Hereditary spastic paraplegia 103 tests
Hereditary spastic paraplegia 114 tests
Hereditary spastic paraplegia 121 test
Hereditary spastic paraplegia 133 tests
Hereditary spastic paraplegia 154 tests
Hereditary spastic paraplegia 174 tests
Hereditary spastic paraplegia 25 tests
Hereditary spastic paraplegia 261 test
Hereditary spastic paraplegia 302 tests
Hereditary spastic paraplegia 314 tests
Hereditary spastic paraplegia 331 test
Hereditary spastic paraplegia 355 tests
Hereditary spastic paraplegia 392 tests
Hereditary spastic paraplegia 3A3 tests
Hereditary spastic paraplegia 43 tests
Hereditary spastic paraplegia 422 tests
Hereditary spastic paraplegia 443 tests
Hereditary spastic paraplegia 481 test
Hereditary spastic paraplegia 501 test
Hereditary spastic paraplegia 551 test
Hereditary spastic paraplegia 561 test
Hereditary spastic paraplegia 5A3 tests
Hereditary spastic paraplegia 62 tests
Hereditary spastic paraplegia 75 tests
Hereditary spastic paraplegia 722 tests
Hereditary spastic paraplegia 731 test
Hereditary spastic paraplegia 81 test
Hereditary spastic paraplegia 9A1 test
Hereditary spherocytosis type 11 test
Hereditary spherocytosis type 31 test
Hereditary spherocytosis type 42 tests
Hereditary spherocytosis type 51 test
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11 test
Hermansky-Pudlak syndrome2 tests
Hermansky-Pudlak syndrome 13 tests
Hermansky-Pudlak syndrome 101 test
Hermansky-Pudlak syndrome 111 test
Hermansky-Pudlak Syndrome 121 test
Hermansky-Pudlak Syndrome 131 test
Hermansky-Pudlak Syndrome 141 test
Hermansky-Pudlak syndrome 24 tests
Hermansky-Pudlak syndrome 32 tests
Hermansky-Pudlak syndrome 42 tests
Hermansky-Pudlak syndrome 52 tests
Hermansky-Pudlak syndrome 62 tests
Hermansky-Pudlak syndrome 72 tests
Hermansky-Pudlak syndrome 82 tests
Hermansky-Pudlak syndrome 92 tests
Herpes simplex encephalitis, susceptibility to, 11 test
Herpes simplex encephalitis, susceptibility to, 31 test
Herpes simplex encephalitis, susceptibility to, 41 test
Heterotaxy, visceral, 1, X-linked1 test
Heterotaxy, visceral, 2, autosomal1 test
Heterotaxy, visceral, 4, autosomal1 test
Heterotopia, periventricular, X-linked dominant1 test
Hidrotic ectodermal dysplasia syndrome2 tests
Hirschsprung disease, susceptibility to, 11 test
HNSHA due to aldolase A deficiency1 test
Holoprosencephaly 113 tests
Holoprosencephaly 23 tests
Holoprosencephaly 33 tests
Holoprosencephaly 43 tests
Holoprosencephaly 53 tests
Holoprosencephaly 62 tests
Holoprosencephaly 73 tests
Holoprosencephaly 82 tests
Holoprosencephaly 93 tests
Holoprosencephaly sequence2 tests
Holt-Oram syndrome2 tests
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
HSD10 mitochondrial disease1 test
Huntington disease2 tests
Huntington disease-like 14 tests
Huntington disease-like 23 tests
Huppke-Brendel syndrome1 test
Hutchinson-Gilford syndrome1 test
Hydrocephalus, nonsyndromic, autosomal recessive 11 test
Hydrocephalus, nonsyndromic, autosomal recessive 21 test
Hyper-IgE recurrent infection syndrome 1, autosomal dominant2 tests
Hyper-IgM syndrome type 11 test
Hyper-IgM syndrome type 21 test
Hyper-IgM syndrome type 31 test
Hyper-IgM syndrome type 41 test
Hypercholesterolemia, familial, 12 tests
Hyperekplexia1 test
Hyperekplexia 13 tests
Hyperekplexia 21 test
Hyperekplexia 32 tests
Hyperglycinuria2 tests
Hyperimmunoglobulin D with periodic fever2 tests
Hyperinsulinism due to glucokinase deficiency1 test
Hypermanganesemia with dystonia, polycythemia, and cirrhosis8 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome4 tests
Hyperphenylalaninemia1 test
Hyperphosphatasemia with bone disease2 tests
Hyperprolinemia type 21 test
Hypertrophic cardiomyopathy 12 tests
Hypertrophic cardiomyopathy 101 test
Hypertrophic cardiomyopathy 111 test
Hypertrophic cardiomyopathy 121 test
Hypertrophic cardiomyopathy 131 test
Hypertrophic cardiomyopathy 151 test
Hypertrophic cardiomyopathy 161 test
Hypertrophic cardiomyopathy 171 test
Hypertrophic cardiomyopathy 181 test
Hypertrophic cardiomyopathy 191 test
Hypertrophic cardiomyopathy 22 tests
Hypertrophic cardiomyopathy 201 test
Hypertrophic cardiomyopathy 31 test
Hypertrophic cardiomyopathy 42 tests
Hypertrophic cardiomyopathy 61 test
Hypertrophic cardiomyopathy 71 test
Hypertrophic cardiomyopathy 81 test
Hypertrophic cardiomyopathy 91 test
Hypertrophic osteoarthropathy, primary, autosomal recessive, 11 test
Hypertrophic osteoarthropathy, primary, autosomal recessive, 21 test
Hypoalphalipoproteinemia, primary, 11 test
Hypochondroplasia2 tests
Hypogonadotropic hypogonadism 24 without anosmia1 test
Hypogonadotropic hypogonadism 5 with or without anosmia1 test
Hypogonadotropic hypogonadism 6 with or without anosmia1 test
Hypogonadotropic hypogonadism 7 with or without anosmia1 test
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome1 test
Hypohidrotic ectodermal dysplasia1 test
Hypohidrotic X-linked ectodermal dysplasia1 test
Hypokalemic periodic paralysis2 tests
Hypokalemic periodic paralysis, type 12 tests
Hypokalemic periodic paralysis, type 22 tests
Hypomyelinating leukodystrophy 25 tests
Hypomyelinating leukodystrophy 33 tests
Hypomyelinating leukodystrophy 41 test
Hypomyelinating leukodystrophy 67 tests
Hypomyelination and Congenital Cataract3 tests
Hypomyelination with brain stem and spinal cord involvement and leg spasticity1 test
Hypoparathyroidism, deafness, renal disease syndrome1 test
Hypophosphatasia2 tests
Hypophosphatemic nephrolithiasis/osteoporosis 12 tests
Hypophosphatemic nephrolithiasis/osteoporosis 21 test
Hypophosphatemic Rickets Disorders3 tests
Hypophosphatemic rickets, autosomal recessive, 12 tests
Hypophosphatemic rickets, autosomal recessive, 22 tests
Hypophosphatemic rickets, X-linked recessive2 tests
Hypopigmentation-punctate palmoplantar keratoderma syndrome1 test
Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
Hypoplastic left heart syndrome 12 tests
Hypoplastic left heart syndrome 22 tests
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
Hypospadias 1, X-linked1 test
Hypothyroidism due to TSH receptor mutations1 test
Hypothyroidism, congenital, nongoitrous, 21 test
Hypothyroidism, congenital, nongoitrous, 51 test
Hypotonia with lactic acidemia and hyperammonemia2 tests
Hypotrichosis 11 test
Hypotrichosis 21 test
Hypotrichosis 61 test
Hypotrichosis 81 test
Hypotrichosis-lymphedema-telangiectasia syndrome1 test
Ichthyosis bullosa of Siemens1 test
Ichthyosis prematurity syndrome1 test
Ichthyosis vulgaris1 test
Ichthyosis, hystrix-like, with hearing loss2 tests
Idiopathic basal ganglia calcification 11 test
Idiopathic CD4 lymphocytopenia1 test
Idiopathic hypereosinophilic syndrome1 test
IFAP syndrome 1, with or without BRESHECK syndrome1 test
IMAGe syndrome1 test
Imerslund-Grasbeck syndrome1 test
Iminoglycinuria2 tests
Immunodeficiency 141 test
Immunodeficiency 181 test
Immunodeficiency 27A1 test
Immunodeficiency 281 test
Immunodeficiency 331 test
Immunodeficiency 511 test
Immunodeficiency 671 test
Immunodeficiency 83, susceptibility to viral infections1 test
Immunodeficiency due to CD25 deficiency1 test
Immunodeficiency, common variable, 11 test
Immunodeficiency-centromeric instability-facial anomalies syndrome 11 test
Immunodeficiency-centromeric instability-facial anomalies syndrome 21 test
Immunoglobulin-mediated membranoproliferative glomerulonephritis2 tests
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 16 tests
Incontinentia pigmenti syndrome1 test
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1 test
Infantile convulsions and choreoathetosis3 tests
Infantile cortical hyperostosis1 test
Infantile GM1 gangliosidosis3 tests
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency2 tests
Infantile hypophosphatasia1 test
Infantile liver failure syndrome 11 test
Infantile nephronophthisis1 test
Infantile neuroaxonal dystrophy7 tests
Infantile onset spinocerebellar ataxia3 tests
Infantile-onset ascending hereditary spastic paralysis1 test
Infantile-onset X-linked spinal muscular atrophy3 tests
Inflammatory bowel disease 11 test
Inflammatory bowel disease 281 test
Inherited Creutzfeldt-Jakob disease4 tests
Inherited glutathione synthetase deficiency1 test
Inherited prion disease3 tests
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
Intellectual disability, autosomal dominant 11 test
Intellectual disability, autosomal dominant 131 test
Intellectual disability, autosomal dominant 201 test
Intellectual disability, autosomal dominant 291 test
Intellectual disability, autosomal dominant 51 test
Intellectual disability, autosomal dominant 92 tests
Intellectual disability, autosomal recessive 121 test
Intellectual disability, X-linked 11 test
Intellectual disability, X-linked 211 test
Intellectual disability, X-linked, with or without seizures, arx-related1 test
Intellectual disability, X-linked, with panhypopituitarism1 test
Intellectual disability-hypotonic facies syndrome, X-linked, 11 test
Interstitial lung disease due to ABCA3 deficiency1 test
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1 test
Invasive pneumococcal disease, recurrent isolated1 test
Iodotyrosine deiodination defect1 test
Iodotyrosyl coupling defect1 test
IQCB1-Related Leber Congenital Amaurosis1 test
Irido-corneo-trabecular dysgenesis2 tests
Ischemic stroke1 test
Isolated 17-Linked Lissencephaly2 tests
Isolated focal cortical dysplasia type II1 test
Isolated lutropin deficiency1 test
Isolated microphthalmia 21 test
Isolated microphthalmia 31 test
Isolated microphthalmia 51 test
Isolated Nonsyndromic Congenital Heart Disease/Defects1 test
Isolated optic nerve hypoplasia1 test
Isolated thyroid-stimulating hormone deficiency1 test
Jackson-Weiss syndrome1 test
Jawad syndrome1 test
Jervell and Lange-Nielsen syndrome 11 test
Jervell and Lange-Nielsen syndrome 21 test
Jeune thoracic dystrophy1 test
Joubert syndrome 15 tests
Joubert syndrome 105 tests
Joubert syndrome 134 tests
Joubert syndrome 144 tests
Joubert syndrome 154 tests
Joubert syndrome 164 tests
Joubert syndrome 174 tests
Joubert syndrome 184 tests
Joubert syndrome 25 tests
Joubert syndrome 204 tests
Joubert syndrome 36 tests
Joubert syndrome 55 tests
Joubert syndrome 65 tests
Joubert syndrome 75 tests
Joubert syndrome 85 tests
Joubert syndrome 95 tests
Joubert syndrome and related disorders4 tests
Joubert syndrome with renal defect6 tests
Junctional epidermolysis bullosa1 test
Junctional epidermolysis bullosa gravis of Herlitz1 test
Junctional epidermolysis bullosa with pyloric atresia1 test
Junctional epidermolysis bullosa, non-Herlitz type1 test
Juvenile (Subacute) Hexosaminidase A Deficiency5 tests
Juvenile cataract-microcornea-renal glucosuria syndrome1 test
Juvenile hemochromatosis1 test
Juvenile myelomonocytic leukemia2 tests
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
Juvenile onset Parkinson disease 19A2 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
Juvenile primary lateral sclerosis1 test
Juvenile retinoschisis2 tests
Kartagener syndrome2 tests
Kennedy disease2 tests
Keratosis follicularis1 test
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome1 test
Keutel syndrome1 test
Kindler syndrome1 test
Klippel-Feil syndrome 1, autosomal dominant1 test
Klippel-Feil syndrome 2, autosomal recessive2 tests
Klippel-Feil syndrome 3, autosomal dominant1 test
Kniest dysplasia1 test
Knobloch syndrome1 test
Knuckle pads, deafness AND leukonychia syndrome1 test
Kostmann syndrome2 tests
Krabbe disease due to saposin A deficiency2 tests
Kufor-Rakeb syndrome5 tests
L-2-hydroxyglutaric aciduria5 tests
L-ferritin deficiency1 test
L1 syndrome1 test
Lafora disease5 tests
Landau-Kleffner syndrome2 tests
Laron-type isolated somatotropin defect1 test
Late-onset retinal degeneration1 test
Leber congenital amaurosis1 test
Leber congenital amaurosis 12 tests
Leber congenital amaurosis 102 tests
Leber congenital amaurosis 121 test
Leber congenital amaurosis 131 test
Leber congenital amaurosis 142 tests
Leber congenital amaurosis 152 tests
Leber congenital amaurosis 161 test
Leber congenital amaurosis 22 tests
Leber congenital amaurosis 32 tests
Leber congenital amaurosis 42 tests
Leber congenital amaurosis 51 test
Leber congenital amaurosis 61 test
Leber congenital amaurosis 72 tests
Leber congenital amaurosis 82 tests
Leber congenital amaurosis 91 test
Leber optic atrophy5 tests
Left ventricular noncompaction1 test
Left ventricular noncompaction 11 test
Left ventricular noncompaction 101 test
Left Ventricular Noncompaction 3, with or without Dilated Cardiomyopathy1 test
Left ventricular noncompaction 41 test
Left ventricular noncompaction 51 test
Left ventricular noncompaction 91 test
Left Ventricular Outflow Tract Obstruction (LVOTO)1 test
Left-right axis malformations1 test
Legg-Calve-Perthes disease1 test
Legius syndrome6 tests
Leigh syndrome1 test
Leigh Syndrome (mtDNA mutation)1 test
Leigh Syndrome (nuclear DNA mutation)4 tests
Lenz-Majewski hyperostosis syndrome3 tests
LEOPARD syndrome 15 tests
LEOPARD syndrome 24 tests
LEOPARD syndrome 34 tests
Lesch-Nyhan syndrome1 test
Lethal acantholytic epidermolysis bullosa1 test
Lethal arthrogryposis-anterior horn cell disease syndrome1 test
Lethal congenital contracture syndrome 11 test
Lethal congenital glycogen storage disease of heart1 test
Lethal multiple pterygium syndrome2 tests
Lethal osteosclerotic bone dysplasia2 tests
Lethal tight skin contracture syndrome1 test
Leukocyte adhesion deficiency 12 tests
Leukocyte adhesion deficiency type II1 test
Leukoencephalopathy with Ataxia due to ClC-2 Deficiency3 tests
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome4 tests
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1 test
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome2 tests
Levy-Hollister syndrome5 tests
Lewy body dementia3 tests
Leydig cell agenesis1 test
Li-Fraumeni syndrome2 tests
Li-Fraumeni syndrome 21 test
Liddle syndrome 12 tests
Limb-girdle muscular dystrophy1 test
Limb-girdle muscular dystrophy due to POMK deficiency1 test
Linear nevus sebaceous syndrome2 tests
Linear skin defects with multiple congenital anomalies 11 test
Lipoprotein glomerulopathy1 test
Lissencephaly2 tests
Lissencephaly 44 tests
Lissencephaly due to LIS1 mutation1 test
Lissencephaly due to TUBA1A mutation3 tests
Lissencephaly type 1 due to doublecortin gene mutation3 tests
Loeys-Dietz syndrome2 tests
Loeys-Dietz syndrome 12 tests
Loeys-Dietz syndrome 22 tests
Loeys-Dietz syndrome 42 tests
Long QT syndrome1 test
Long QT syndrome 11 test
Long QT syndrome 101 test
Long QT syndrome 111 test
Long QT syndrome 121 test
Long QT syndrome 132 tests
Long QT syndrome 21 test
Long QT syndrome 31 test
Long QT syndrome 41 test
Long QT syndrome 52 tests
Long QT syndrome 61 test
Long QT syndrome 91 test
Loricrin keratoderma1 test
Low phospholipid associated cholelithiasis1 test
Lowe syndrome1 test
Lower motor neuron syndrome with late-adult onset1 test
Lung carcinoma2 tests
Lymphangiomyomatosis2 tests
Lymphatic malformation 34 tests
Lymphatic malformation 41 test
Lymphedema praecox1 test
Lynch syndrome 12 tests
Macrocephaly and epileptic encephalopathy1 test
Macrocephaly-autism syndrome1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Macular corneal dystrophy1 test
Macular degeneration, X-linked atrophic1 test
Majeed syndrome2 tests
Malan overgrowth syndrome1 test
Malignant hyperthermia of anesthesia1 test
Malignant hyperthermia, susceptibility to, 11 test
Malignant hyperthermia, susceptibility to, 21 test
Malignant hyperthermia, susceptibility to, 31 test
Malignant hyperthermia, susceptibility to, 41 test
Malignant hyperthermia, susceptibility to, 51 test
Malignant hyperthermia, susceptibility to, 61 test
Malignant melanoma of skin1 test
Malignant tumor of esophagus1 test
Malignant tumor of prostate2 tests
Malignant tumor of testis2 tests
Malignant tumor of urinary bladder2 tests
Maple syrup urine disease3 tests
Maple syrup urine disease, mild variant1 test
Marfan syndrome2 tests
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections2 tests
Marinesco-Sjögren syndrome3 tests
Marshall syndrome1 test
Marshall-Smith syndrome1 test
Martsolf syndrome1 test
MASA syndrome1 test
Mast syndrome3 tests
Matthew-Wood syndrome1 test
Maturity-onset diabetes of the young type 11 test
Maturity-onset diabetes of the young type 21 test
Maturity-onset diabetes of the young type 31 test
McCune-Albright syndrome1 test
McLeod neuroacanthocytosis syndrome1 test
Meckel syndrome, type 11 test
Meckel syndrome, type 102 tests
Meckel syndrome, type 22 tests
Meckel syndrome, type 32 tests
Meckel syndrome, type 42 tests
Meckel syndrome, type 52 tests
Meckel syndrome, type 62 tests
Meckel syndrome, type 81 test
Meckel syndrome, type 92 tests
Meckel-Gruber syndrome2 tests
MEDNIK syndrome1 test
Medulloblastoma2 tests
Megaconial type congenital muscular dystrophy2 tests
Megalencephalic leukoencephalopathy with subcortical cysts7 tests
Megalencephalic leukoencephalopathy with subcortical cysts 13 tests
Megalencephalic leukoencephalopathy with subcortical cysts 2A3 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 15 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 25 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31 test
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome, Somatic4 tests
MEGF8-related Carpenter syndrome1 test
Meier-Gorlin syndrome1 test
Meier-Gorlin syndrome 11 test
Meier-Gorlin syndrome 22 tests
Meier-Gorlin syndrome 32 tests
Meier-Gorlin syndrome 41 test
Meier-Gorlin syndrome 51 test
Melanoma and neural system tumor syndrome1 test
Melanoma, cutaneous malignant, susceptibility to, 11 test
Melanoma, cutaneous malignant, susceptibility to, 22 tests
Melanoma, cutaneous malignant, susceptibility to, 31 test
Melanoma, cutaneous malignant, susceptibility to, 51 test
Melanoma, cutaneous malignant, susceptibility to, 81 test
Melanoma-pancreatic cancer syndrome1 test
Melnick-Needles syndrome1 test
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency1 test
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency1 test
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency1 test
Menkes kinky-hair syndrome5 tests
Merosin deficient congenital muscular dystrophy2 tests
MERRF syndrome1 test
MERRF/MELAS overlap syndrome1 test
Metachondromatosis2 tests
Metachromatic leukodystrophy8 tests
Metaphyseal anadysplasia 21 test
Metaphyseal chondrodysplasia, Jansen type1 test
Metaphyseal chondrodysplasia, McKusick type3 tests
Metaphyseal chondrodysplasia, Schmid type2 tests
Metaphyseal dysplasia without hypotrichosis1 test
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome2 tests
Metatropic dysplasia4 tests
Mevalonic aciduria1 test
MGAT2-congenital disorder of glycosylation1 test
Microcephalic osteodysplastic primordial dwarfism type II3 tests
Microcephaly 1, primary, autosomal recessive2 tests
Microcephaly 11, primary, autosomal recessive2 tests
Microcephaly 12, primary, autosomal recessive2 tests
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations3 tests
Microcephaly 3, primary, autosomal recessive3 tests
Microcephaly 4, primary, autosomal recessive2 tests
Microcephaly 5, primary, autosomal recessive3 tests
Microcephaly 6, primary, autosomal recessive2 tests
Microcephaly 7, primary, autosomal recessive2 tests
Microcephaly 8, primary, autosomal recessive2 tests
Microcephaly 9, primary, autosomal recessive2 tests
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1 test
Microcephaly with Polymicrogyria2 tests
Microcephaly, cortical malformations, and intellectual disability2 tests
Microcephaly, epilepsy, and diabetes syndrome2 tests
Microcephaly, normal intelligence and immunodeficiency2 tests
Microcephaly, seizures, and developmental delay2 tests
Microcephaly-capillary malformation syndrome3 tests
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1 test
Microlissencephaly2 tests
Microphthalmia with brain and digit anomalies1 test
Microphthalmia, isolated, with coloboma 52 tests
Microphthalmia, syndromic 11 test
Migraine, familial hemiplegic, 13 tests
Migraine, familial hemiplegic, 22 tests
Migraine, familial hemiplegic, 32 tests
Migraine, with or without aura, susceptibility to, 131 test
Miller Dieker syndrome2 tests
Mirror movements 11 test
Mirror movements 21 test
Mismatch repair cancer syndrome 13 tests
Mitochondrial complex I deficiency2 tests
Mitochondrial complex II deficiency, nuclear type 11 test
Mitochondrial complex III deficiency nuclear type 12 tests
Mitochondrial complex III deficiency nuclear type 21 test
Mitochondrial complex IV deficiency, nuclear type 13 tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 31 test
Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B1 test
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11 test
Mitochondrial disease1 test
Mitochondrial DNA deletion syndrome with progressive myopathy1 test
Mitochondrial DNA depletion syndrome 15 tests
Mitochondrial DNA depletion syndrome 112 tests
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 4b6 tests
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 8a2 tests
Mitochondrial DNA depletion syndrome 91 test
Mitochondrial DNA depletion syndrome, encephalomyopathic form1 test
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
Mitochondrial DNA depletion syndrome, myopathic form3 tests
Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency2 tests
Mitochondrial myopathy with diabetes1 test
Mitochondrial non-syndromic sensorineural hearing loss1 test
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency1 test
Miyoshi muscular dystrophy 11 test
Miyoshi muscular dystrophy 31 test
Monocytopenia with susceptibility to infections1 test
Mowat-Wilson syndrome1 test
Moyamoya disease 51 test
MPDU1-congenital disorder of glycosylation2 tests
MPI-congenital disorder of glycosylation1 test
MTHFR THERMOLABILE POLYMORPHISM1 test
Mucolipidosis type II1 test
Mucolipidosis type IV1 test
Mucopolysaccharidosis type 12 tests
Mucopolysaccharidosis type 62 tests
Mucopolysaccharidosis type 73 tests
Mucopolysaccharidosis, MPS-II3 tests
Mucopolysaccharidosis, MPS-III-A3 tests
Mucopolysaccharidosis, MPS-III-B3 tests
Mucopolysaccharidosis, MPS-III-C3 tests
Mucopolysaccharidosis, MPS-III-D3 tests
Mucopolysaccharidosis, MPS-IV-A2 tests
Mucopolysaccharidosis, MPS-IV-B6 tests
Muenke syndrome2 tests
Mullerian aplasia and hyperandrogenism1 test
Multiminicore myopathy1 test
Multiple acyl-CoA dehydrogenase deficiency4 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 22 tests
Multiple congenital exostosis1 test
Multiple cutaneous and mucosal venous malformations1 test
Multiple endocrine neoplasia, type 11 test
Multiple epiphyseal dysplasia type 12 tests
Multiple epiphyseal dysplasia type 42 tests
Multiple epiphyseal dysplasia type 53 tests
Multiple epiphyseal dysplasia, Beighton type2 tests
Multiple Epiphyseal Dysplasia, Dominant1 test
Multiple gastrointestinal atresias1 test
Multiple mitochondrial dysfunctions syndrome 11 test
Multiple mitochondrial dysfunctions syndrome 21 test
Multiple sclerosis, susceptibility to, 51 test
Multiple sulfatase deficiency1 test
Multisystemic smooth muscle dysfunction syndrome3 tests
Muscle AMP deaminase deficiency1 test
Muscle eye brain disease1 test
Muscular dystrophy, limb-girdle, autosomal dominant1 test
Muscular dystrophy-dystroglycanopathy2 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 72 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A131 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A141 test
Muscular dystrophy-dystroglycanopathy type B61 test
Mutilating keratoderma2 tests
Myasthenic syndrome, congenital, 1B, fast-channel2 tests
Myasthenic syndrome, slow-channel congenital3 tests
Myelodysplastic syndrome2 tests
Myeloproliferative disorder, chronic, with eosinophilia1 test
MYH7-related skeletal myopathy2 tests
Myhre syndrome1 test
Myoclonic dystonia 114 tests
Myoclonic dystonia 261 test
Myoclonic-astatic epilepsy1 test
Myoclonus, familial, 11 test
Myofibrillar myopathy1 test
Myofibrillar myopathy 21 test
Myofibrillar myopathy 32 tests
Myofibrillar myopathy 41 test
Myofibrillar myopathy 61 test
Myofibromatosis, infantile, 11 test
Myofibromatosis, infantile, 21 test
Myoglobinuria, acute recurrent, autosomal recessive1 test
Myokymia 1 with or without hypomagnesemia2 tests
Myopathy, centronuclear, 21 test
Myopathy, lactic acidosis, and sideroblastic anemia 11 test
Myopathy, lactic acidosis, and sideroblastic anemia 21 test
Myopathy, myofibrillar, 9, with early respiratory failure1 test
Myopathy, proximal, and ophthalmoplegia1 test
Myopathy, reducing body, X-linked, childhood-onset1 test
Myopathy, reducing body, X-linked, early-onset, severe1 test
Myopathy, tubular aggregate, 11 test
Myopathy, tubular aggregate, 21 test
Myosclerosis1 test
Myosin storage myopathy3 tests
Nager syndrome1 test
Nail-patella syndrome2 tests
Nail-patella-like renal disease1 test
Namaqualand hip dysplasia1 test
Nance-Horan syndrome1 test
Narcolepsy 11 test
Naxos disease3 tests
NDE1-related microhydranencephaly2 tests
Nemaline myopathy1 test
Nemaline myopathy 21 test
Nemaline myopathy 51 test
Nemaline myopathy 61 test
Nemaline myopathy 71 test
Nemaline myopathy 81 test
Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
Neonatal severe primary hyperparathyroidism2 tests
Neonatal-onset encephalopathy with rigidity and seizures1 test
Neoplasm of stomach2 tests
Nephrogenic diabetes insipidus1 test
Nephronophthisis1 test
Nephronophthisis 13 tests
Nephronophthisis 111 test
Nephronophthisis 124 tests
Nephronophthisis 131 test
Nephronophthisis 144 tests
Nephronophthisis 161 test
Nephronophthisis 171 test
Nephronophthisis 181 test
Nephronophthisis 191 test
Nephronophthisis 201 test
Nephronophthisis 211 test
Nephronophthisis 221 test
Nephronophthisis 231 test
Nephronophthisis 241 test
Nephronophthisis 251 test
Nephronophthisis 261 test
Nephronophthisis 271 test
Nephronophthisis 32 tests
Nephronophthisis 42 tests
Nephronophthisis 81 test
Nestor-Guillermo progeria syndrome1 test
Netherton syndrome2 tests
Neural tube defects, folate-sensitive2 tests
Neurodegeneration with brain iron accumulation1 test
Neurodegeneration with brain iron accumulation 2B1 test
Neurodegeneration with brain iron accumulation 41 test
Neurodegeneration with brain iron accumulation 51 test
Neurodegeneration with brain iron accumulation 61 test
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities1 test
Neuroferritinopathy6 tests
Neurofibromatosis, familial spinal6 tests
Neurofibromatosis, type 16 tests
Neurofibromatosis, type 23 tests
Neurofibromatosis-Noonan syndrome6 tests
Neurogenic scapuloperoneal syndrome, Kaeser type1 test
Neuronal ceroid lipofuscinosis2 tests
Neuronal ceroid lipofuscinosis 12 tests
Neuronal ceroid lipofuscinosis 102 tests
Neuronal ceroid lipofuscinosis 114 tests
Neuronal ceroid lipofuscinosis 131 test
Neuronal ceroid lipofuscinosis 22 tests
Neuronal ceroid lipofuscinosis 34 tests
Neuronal ceroid lipofuscinosis 53 tests
Neuronal ceroid lipofuscinosis 72 tests
Neuronal ceroid lipofuscinosis 82 tests
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
Neuronopathy, distal hereditary motor, autosomal dominant 84 tests
Neuronopathy, distal hereditary motor, autosomal recessive 43 tests
Neuronopathy, distal hereditary motor, type 2A2 tests
Neuronopathy, distal hereditary motor, type 2B2 tests
Neuronopathy, distal hereditary motor, type 2C2 tests
Neuronopathy, distal hereditary motor, type 5A6 tests
Neuronopathy, distal hereditary motor, type 5B2 tests
Neuronopathy, distal hereditary motor, type 7A1 test
Neuronopathy, distal hereditary motor, type 7B7 tests
Neuropathy, hereditary sensory and autonomic, type 1C1 test
Neuropathy, hereditary sensory and autonomic, type 2A1 test
Neuropathy, hereditary sensory and autonomic, type 2B1 test
Neuropathy, hereditary sensory, type 1D3 tests
Neuropathy, hereditary sensory, type 2C3 tests
Neutral lipid storage myopathy1 test
Neutropenia, severe congenital, 1, autosomal dominant2 tests
Neutropenia, severe congenital, 2, autosomal dominant1 test
Neutrophil immunodeficiency syndrome1 test
Newfoundland cone-rod dystrophy1 test
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B1 test
Niemann-Pick disease, type C14 tests
Niemann-Pick disease, type C24 tests
NODAL-Related Holoprosencephaly2 tests
Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
Non-Hodgkin lymphoma2 tests
Non-ketotic hyperglycinemia6 tests
Noncompaction of left ventricular myocardium, familial isolated1 test
Nonpapillary renal cell carcinoma2 tests
Noonan syndrome3 tests
Noonan syndrome 15 tests
Noonan syndrome 34 tests
Noonan syndrome 43 tests
Noonan syndrome 54 tests
Noonan syndrome 63 tests
Noonan syndrome 74 tests
Noonan syndrome 83 tests
Noonan syndrome with multiple lentigines4 tests
Noonan syndrome-like disorder with loose anagen hair 13 tests
Norman-Roberts syndrome3 tests
Normokalemic periodic paralysis, potassium-sensitive1 test
NPHP3-related Meckel-like syndrome2 tests
Nystagmus 6, congenital, X-linked1 test
Obesity due to congenital leptin deficiency1 test
Occult macular dystrophy2 tests
Ocular albinism with congenital sensorineural hearing loss2 tests
Ocular albinism, type I2 tests
Ocular albinism, type II2 tests
Oculocutaneous albinism type 11 test
Oculocutaneous albinism type 1B2 tests
Oculocutaneous albinism type 33 tests
Oculocutaneous albinism type 43 tests
Oculocutaneous albinism type 51 test
Oculocutaneous albinism type 62 tests
Oculocutaneous albinism type 74 tests
Oculocutaneous albinism type 81 test
Oculocutaneous Albinism Type 91 test
Oculodentodigital dysplasia2 tests
Oculodentodigital dysplasia, autosomal recessive1 test
Oculofaciocardiodental syndrome1 test
Oculootoradial syndrome1 test
Oculopharyngeal muscular dystrophy2 tests
Oculotrichoanal syndrome2 tests
Oligodontia-cancer predisposition syndrome1 test
Olmsted syndrome 11 test
Opsismodysplasia1 test
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1 test
Optic atrophy 111 test
Optic atrophy 121 test
Optic atrophy 34 tests
Optic atrophy 81 test
Optic atrophy 91 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy4 tests
Optic nerve hypoplasia and abnormalities of the central nervous system1 test
Ornithine aminotransferase deficiency1 test
Orofacial cleft 51 test
Orofacial cleft 6, susceptibility to1 test
Orofaciodigital syndrome I2 tests
Orofaciodigital syndrome type 61 test
Osteocraniostenosis1 test
Osteodysplastic primordial dwarfism, type 11 test
Osteogenesis imperfecta2 tests
Osteogenesis imperfecta type 101 test
Osteogenesis imperfecta type 111 test
Osteogenesis imperfecta type 121 test
Osteogenesis imperfecta type 131 test
Osteogenesis imperfecta type 141 test
Osteogenesis imperfecta type 51 test
Osteogenesis imperfecta type 61 test
Osteogenesis imperfecta type 72 tests
Osteogenesis imperfecta type 82 tests
Osteogenesis imperfecta type 92 tests
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta type III1 test
Osteogenesis imperfecta with normal sclerae, dominant form1 test
Osteogenesis imperfecta, perinatal lethal1 test
Osteopathia striata with cranial sclerosis1 test
Osteopetrosis with renal tubular acidosis2 tests
Osteoporosis with pseudoglioma1 test
Oto-palato-digital syndrome, type I2 tests
Oto-palato-digital syndrome, type II2 tests
Otospondylomegaepiphyseal dysplasia, autosomal dominant2 tests
Otospondylomegaepiphyseal dysplasia, autosomal recessive2 tests
Ovarian neoplasm1 test
Oxoglutaricaciduria1 test
Pachyonychia congenita 12 tests
Pachyonychia congenita 21 test
Pachyonychia congenita syndrome1 test
PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia2 tests
Pallister-Hall syndrome1 test
Palmoplantar keratoderma i, striate, focal, or diffuse1 test
Palmoplantar keratoderma, epidermolytic1 test
Palmoplantar keratoderma, nonepidermolytic, focal 11 test
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1 test
Palmoplantar keratoderma-deafness syndrome1 test
Pancreatic Cancer Susceptibility 41 test
Pancreatic cancer, susceptibility to, 11 test
Pancreatic cancer, susceptibility to, 21 test
Pancreatic cancer, susceptibility to, 31 test
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome2 tests
Panhypopituitarism, X-linked1 test
Papillary renal cell carcinoma type 11 test
Papillary thyroid carcinoma1 test
Papillon-Lefèvre syndrome1 test
Paragangliomas 12 tests
Paragangliomas 22 tests
Paragangliomas 31 test
Paragangliomas 42 tests
Paragangliomas 51 test
Paramyotonia congenita of Von Eulenburg1 test
Parastremmatic dwarfism3 tests
Parathyroid carcinoma1 test
Parkes Weber syndrome3 tests
Parkinson disease2 tests
Parkinson disease 13, autosomal dominant, susceptibility to2 tests
Parkinson disease 173 tests
Parkinson disease 18, autosomal dominant, susceptibility to2 tests
Parkinsonian-pyramidal syndrome3 tests
Paroxysmal extreme pain disorder2 tests
Paroxysmal nocturnal hemoglobinuria 12 tests
Paroxysmal nonkinesigenic dyskinesia 14 tests
Partial androgen insensitivity syndrome1 test
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency1 test
Partington syndrome1 test
Patterned macular dystrophy 12 tests
PCWH syndrome4 tests
Pelger-Huët anomaly1 test
Pelizaeus-Merzbacher disease4 tests
Pendred syndrome1 test
Periodic fever syndrome1 test
Periodic fever-infantile enterocolitis-autoinflammatory syndrome1 test
Periventricular heterotopia with microcephaly, autosomal recessive1 test
Periventricular laminar heterotopia2 tests
Periventricular nodular heterotopia2 tests
Permanent neonatal diabetes mellitus1 test
Peroxisome biogenesis disorder3 tests
Peroxisome biogenesis disorder 1A (Zellweger)3 tests
Peroxisome biogenesis disorder 1B1 test
Peroxisome biogenesis disorder 2A (Zellweger)1 test
Peroxisome biogenesis disorder 2B1 test
Peroxisome biogenesis disorder 3A (Zellweger)1 test
Peroxisome biogenesis disorder 4A (Zellweger)1 test
Peroxisome biogenesis disorder 4B1 test
Peroxisome biogenesis disorder 5A (Zellweger)1 test
Peroxisome biogenesis disorder 5B1 test
Peroxisome biogenesis disorder 6A (Zellweger)1 test
Peroxisome biogenesis disorder 6B1 test
Peroxisome biogenesis disorder 7A (Zellweger)1 test
Peroxisome biogenesis disorder 7B1 test
Peroxisome biogenesis disorder 9B1 test
Peroxisome biogenesis disorder type 3B2 tests
Perrault syndrome 11 test
Perrault syndrome 52 tests
Perry syndrome7 tests
Persistent polyclonal B-cell lymphocytosis1 test
Peutz-Jeghers syndrome2 tests
Pfeiffer syndrome2 tests
PGM1-congenital disorder of glycosylation1 test
PHARC syndrome2 tests
Phenylketonuria1 test
Pheochromocytoma6 tests
Phosphoribosylpyrophosphate synthetase superactivity1 test
Phytanic acid storage disease4 tests
Pick disease2 tests
Piebaldism1 test
Pigmentary pallidal degeneration6 tests
Pigmentary retinal dystrophy4 tests
Pigmented nodular adrenocortical disease, primary, 11 test
Pigmented paravenous retinochoroidal atrophy1 test
Pilomatrixoma1 test
Pitt-Hopkins syndrome2 tests
Pitt-Hopkins-like syndrome 22 tests
Pituitary hormone deficiency, combined, 11 test
Pituitary hormone deficiency, combined, 21 test
Pituitary hormone deficiency, combined, 61 test
Pityriasis rubra pilaris1 test
Platyspondylic dysplasia, Torrance type2 tests
PMM2-congenital disorder of glycosylation2 tests
Poikiloderma with neutropenia1 test
POLG-related disorder4 tests
POLR3-related leukodystrophy1 test
Polycystic kidney disease 22 tests
Polycystic kidney disease 3 with or without polycystic liver disease1 test
Polycystic kidney disease 51 test
Polycystic kidney disease 6 with or without polycystic liver disease1 test
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 15 tests
Polydactyly, postaxial, type A13 tests
Polyglandular autoimmune syndrome, type 11 test
Polymicrogyria3 tests
Polymicrogyria with optic nerve hypoplasia3 tests
Polysyndactyly 43 tests
Pontocerebellar hypoplasia type 1A6 tests
Pontocerebellar hypoplasia type 1B3 tests
Pontocerebellar hypoplasia type 22 tests
Pontocerebellar hypoplasia type 2A1 test
Pontocerebellar hypoplasia type 2B3 tests
Pontocerebellar hypoplasia type 2C3 tests
Pontocerebellar hypoplasia type 2D2 tests
Pontocerebellar hypoplasia type 32 tests
Pontocerebellar hypoplasia type 44 tests
Pontocerebellar hypoplasia type 52 tests
Pontocerebellar hypoplasia type 65 tests
Pontoneocerebellar hypoplasia3 tests
Popliteal pterygium syndrome1 test
Porencephalic cyst2 tests
Porokeratosis 3, disseminated superficial actinic type1 test
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome1 test
Posterior column ataxia-retinitis pigmentosa syndrome2 tests
Postmenopausal osteoporosis1 test
Potassium-aggravated myotonia2 tests
Prader-Willi syndrome1 test
Predisposition to invasive fungal disease due to CARD9 deficiency1 test
Pregnancy loss, recurrent, susceptibility to, 11 test
Primary CD59 deficiency1 test
Primary ciliary dyskinesia1 test
Primary ciliary dyskinesia 101 test
Primary ciliary dyskinesia 111 test
Primary ciliary dyskinesia 121 test
Primary ciliary dyskinesia 131 test
Primary ciliary dyskinesia 141 test
Primary ciliary dyskinesia 151 test
Primary ciliary dyskinesia 161 test
Primary ciliary dyskinesia 171 test
Primary ciliary dyskinesia 182 tests
Primary ciliary dyskinesia 192 tests
Primary ciliary dyskinesia 21 test
Primary ciliary dyskinesia 201 test
Primary ciliary dyskinesia 221 test
Primary ciliary dyskinesia 231 test
Primary ciliary dyskinesia 242 tests
Primary ciliary dyskinesia 252 tests
Primary ciliary dyskinesia 261 test
Primary ciliary dyskinesia 272 tests
Primary ciliary dyskinesia 291 test
Primary ciliary dyskinesia 31 test
Primary ciliary dyskinesia 301 test
Primary ciliary dyskinesia 41 test
Primary ciliary dyskinesia 51 test
Primary ciliary dyskinesia 62 tests
Primary ciliary dyskinesia 71 test
Primary ciliary dyskinesia 81 test
Primary ciliary dyskinesia 91 test
Primary erythromelalgia1 test
Primary Familial Brain Calcification 51 test
Primary familial hypertrophic cardiomyopathy1 test
Primary familial polycythemia due to EPO receptor mutation2 tests
Primary hyperoxaluria1 test
Primary hyperoxaluria type 32 tests
Primary hyperoxaluria, type I2 tests
Primary hyperoxaluria, type II1 test
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency2 tests
Primary myelofibrosis2 tests
Primary open angle glaucoma1 test
Progressive demyelinating neuropathy with bilateral striatal necrosis1 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 15 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 21 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 33 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 42 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 52 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 15 tests
Progressive familial intrahepatic cholestasis type 11 test
Progressive familial intrahepatic cholestasis type 31 test
Progressive myoclonic epilepsy type 33 tests
Progressive myoclonic epilepsy type 52 tests
Progressive myoclonic epilepsy type 64 tests
Progressive osseous heteroplasia1 test
Progressive pseudorheumatoid dysplasia2 tests
Progressive sclerosing poliodystrophy5 tests
Progressive supranuclear ophthalmoplegia1 test
Progressive supranuclear palsy-parkinsonism syndrome1 test
Properdin deficiency, X-linked1 test
Proteasome-associated autoinflammatory syndrome 11 test
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1 test
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
Pseudohypoaldosteronism type 2A1 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2C1 test
Pseudohypoaldosteronism type 2D1 test
Pseudohypoaldosteronism type 2E1 test
Pseudohypoaldosteronism, type IB1, autosomal recessive3 tests
Pseudohypoparathyroidism1 test
Pseudohypoparathyroidism type 1B2 tests
Pseudohypoparathyroidism type 1C1 test
Psoriatic arthritis, susceptibility to1 test
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency1 test
Purine-nucleoside phosphorylase deficiency1 test
Pyknodysostosis1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2 tests
Pyogenic bacterial infections due to MyD88 deficiency1 test
Pyridoxal phosphate-responsive seizures1 test
Pyridoxine-dependent epilepsy1 test
Pyruvate dehydrogenase E1-alpha deficiency1 test
Pyruvate dehydrogenase E2 deficiency1 test
Pyruvate dehydrogenase E3 deficiency1 test
Pyruvate dehydrogenase E3-binding protein deficiency1 test
Pyruvate kinase deficiency of red cells1 test
Pyruvate kinase hyperactivity1 test
RAB23-related Carpenter syndrome1 test
Rapadilino syndrome1 test
Recessive dystrophic epidermolysis bullosa-generalized other1 test
Recurrent infections associated with rare immunoglobulin isotypes deficiency1 test
Recurrent Neisseria infections due to factor D deficiency1 test
Renal carnitine transport defect1 test
Renal dysplasia and retinal aplasia3 tests
Renal hypodysplasia/aplasia 11 test
Renal hypomagnesemia 41 test
Renal tubular acidosis with progressive nerve deafness1 test
Renal tubular acidosis, distal, 4, with hemolytic anemia1 test
Renal tubular dysgenesis1 test
Renal-hepatic-pancreatic dysplasia 11 test
Renpenning syndrome4 tests
Restrictive cardiomyopathy1 test
Retinal arterial tortuosity1 test
Retinal cone dystrophy 3A1 test
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies1 test
Retinal dystrophy with or without macular staphyloma1 test
Retinal macular dystrophy type 22 tests
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations5 tests
Retinitis pigmentosa3 tests
Retinitis pigmentosa 13 tests
Retinitis pigmentosa 101 test
Retinitis pigmentosa 112 tests
Retinitis pigmentosa 122 tests
Retinitis pigmentosa 131 test
Retinitis pigmentosa 142 tests
Retinitis pigmentosa 172 tests
Retinitis pigmentosa 181 test
Retinitis pigmentosa 191 test
Retinitis pigmentosa 21 test
Retinitis pigmentosa 203 tests
Retinitis pigmentosa 231 test
Retinitis pigmentosa 251 test
Retinitis pigmentosa 261 test
Retinitis pigmentosa 272 tests
Retinitis pigmentosa 281 test
Retinitis pigmentosa 33 tests
Retinitis pigmentosa 302 tests
Retinitis pigmentosa 311 test
Retinitis pigmentosa 331 test
Retinitis pigmentosa 351 test
Retinitis pigmentosa 361 test
Retinitis pigmentosa 373 tests
Retinitis pigmentosa 381 test
Retinitis pigmentosa 392 tests
Retinitis pigmentosa 43 tests
Retinitis pigmentosa 401 test
Retinitis pigmentosa 411 test
Retinitis pigmentosa 421 test
Retinitis pigmentosa 431 test
Retinitis pigmentosa 442 tests
Retinitis pigmentosa 452 tests
Retinitis pigmentosa 461 test
Retinitis pigmentosa 471 test
Retinitis pigmentosa 481 test
Retinitis pigmentosa 491 test
Retinitis pigmentosa 503 tests
Retinitis pigmentosa 512 tests
Retinitis pigmentosa 541 test
Retinitis pigmentosa 561 test
Retinitis pigmentosa 571 test
Retinitis pigmentosa 581 test
Retinitis pigmentosa 591 test
Retinitis pigmentosa 601 test
Retinitis pigmentosa 611 test
Retinitis pigmentosa 621 test
Retinitis pigmentosa 662 tests
Retinitis pigmentosa 73 tests
Retinitis pigmentosa 731 test
Retinitis pigmentosa 91 test
RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED1 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness3 tests
Retinitis pigmentosa-deafness syndrome1 test
Rett syndrome4 tests
Rett syndrome, congenital variant2 tests
Revesz syndrome2 tests
Reynolds syndrome1 test
RFT1-congenital disorder of glycosylation2 tests
Rhizomelic chondrodysplasia punctata1 test
Rhizomelic chondrodysplasia punctata type 14 tests
Rhizomelic chondrodysplasia punctata type 22 tests
Rhizomelic chondrodysplasia punctata type 33 tests
RIDDLE syndrome1 test
Rieger anomaly1 test
RIN2 syndrome2 tests
Ring dermoid of cornea1 test
Rippling muscle disease 21 test
Roberts-SC phocomelia syndrome1 test
Robinow-Sorauf syndrome1 test
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked1 test
Roussy-Lévy syndrome2 tests
Rubinstein-Taybi syndrome due to CREBBP mutations1 test
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency2 tests
Saethre-Chotzen syndrome2 tests
Salla disease2 tests
Sandhoff disease1 test
Sarcotubular myopathy1 test
Scapuloperoneal spinal muscular atrophy4 tests
Schaaf-Yang syndrome1 test
Schimke immuno-osseous dysplasia2 tests
Schinzel-Giedion syndrome1 test
Schizencephaly3 tests
Schneckenbecken dysplasia2 tests
Schwannomatosis 11 test
Schwartz-Jampel syndrome2 tests
Schwartz-Jampel Syndrome, Type 101 test
Schwartz-Jampel Syndrome, Type 111 test
Schwartz-Jampel Syndrome, Type 31 test
Schwartz-Jampel Syndrome, Type 41 test
Schwartz-Jampel Syndrome, Type 51 test
Schwartz-Jampel Syndrome, Type 61 test
Schwartz-Jampel Syndrome, Type 71 test
Schwartz-Jampel Syndrome, Type 81 test
Schwartz-Jampel Syndrome, Type 91 test
Sclerosteosis 21 test
Sea-blue histiocyte syndrome1 test
Seckel syndrome3 tests
Seckel syndrome 13 tests
Seckel syndrome 24 tests
Seckel syndrome 43 tests
Seckel syndrome 53 tests
Seckel syndrome 64 tests
Seckel syndrome 83 tests
Seizures, benign familial infantile, 23 tests
Seizures, benign familial infantile, 31 test
Seizures, benign familial neonatal, 11 test
Seizures, benign familial neonatal, 21 test
Selective pituitary resistance to thyroid hormone1 test
Sengers syndrome2 tests
Senior-Loken syndrome 15 tests
Senior-Loken Syndrome 103 tests
Senior-Loken Syndrome 113 tests
Senior-Loken Syndrome 123 tests
Senior-Loken Syndrome 132 tests
Senior-Loken Syndrome 142 tests
Senior-Loken Syndrome 152 tests
Senior-Loken syndrome 44 tests
Senior-Loken syndrome 53 tests
Senior-Loken syndrome 64 tests
Senior-Loken syndrome 73 tests
Senior-Loken syndrome 83 tests
Senior-Loken syndrome 93 tests
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis5 tests
Septo-optic dysplasia sequence2 tests
SERKAL syndrome1 test
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome1 test
Severe combined immunodeficiency due to CORO1A deficiency1 test
Severe dermatitis-multiple allergies-metabolic wasting syndrome3 tests
Severe early-childhood-onset retinal dystrophy3 tests
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency1 test
Severe myoclonic epilepsy in infancy2 tests
Severe neurodegenerative syndrome with lipodystrophy2 tests
Severe X-linked mitochondrial encephalomyopathy2 tests
Severe X-linked myotubular myopathy2 tests
Short QT syndrome1 test
Short QT syndrome type 11 test
Short QT syndrome type 21 test
Short QT syndrome type 32 tests
Short-rib thoracic dysplasia 6 with or without polydactyly1 test
Short-rib thoracic dysplasia 7 with or without polydactyly1 test
Short-rib thoracic dysplasia 8 with or without polydactyly1 test
Shprintzen-Goldberg syndrome3 tests
Shwachman-Diamond syndrome 13 tests
Sialic acid storage disease, severe infantile type1 test
Sialidosis type 21 test
Sick sinus syndrome 2, autosomal dominant1 test
Simpson-Golabi-Behmel syndrome type 12 tests
Simpson-Golabi-Behmel syndrome type 21 test
Skin/hair/eye pigmentation, variation in, 111 test
SLC35A1-congenital disorder of glycosylation1 test
SLC35A2-congenital disorder of glycosylation3 tests
Smith-Lemli-Opitz syndrome1 test
Smith-Magenis syndrome1 test
Smith-McCort dysplasia 11 test
Smith-McCort dysplasia 21 test
Solitary median maxillary central incisor syndrome1 test
Somatotroph adenoma1 test
Sotos syndrome3 tests
Spastic ataxia 32 tests
Spastic ataxia 42 tests
Spastic ataxia 51 test
Spastic Paraplegia 281 test
Spastic Paraplegia 511 test
Spastic Paraplegia 521 test
Sphingolipid activator protein 1 deficiency2 tests
Sphingomyelin/cholesterol lipidosis2 tests
Spinal muscular atrophy1 test
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
Spinocerebellar ataxia 73 tests
Spinocerebellar ataxia type 13 tests
Spinocerebellar ataxia type 101 test
Spinocerebellar ataxia type 111 test
Spinocerebellar ataxia type 121 test
Spinocerebellar ataxia type 133 tests
Spinocerebellar ataxia type 142 tests
Spinocerebellar ataxia type 15/162 tests
Spinocerebellar ataxia type 175 tests
Spinocerebellar ataxia type 19/221 test
Spinocerebellar ataxia type 26 tests
Spinocerebellar ataxia type 211 test
Spinocerebellar ataxia type 232 tests
Spinocerebellar ataxia type 273 tests
Spinocerebellar ataxia type 284 tests
Spinocerebellar ataxia type 291 test
Spinocerebellar ataxia type 311 test
Spinocerebellar ataxia type 341 test
Spinocerebellar ataxia type 351 test
Spinocerebellar ataxia type 52 tests
Spinocerebellar ataxia type 62 tests
Spinocerebellar Ataxia Type191 test
Spinocerebellar ataxia with epilepsy5 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 26 tests
Split hand-foot malformation 41 test
Split hand-foot malformation 61 test
Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
Spondylocostal dysostosis 1, autosomal recessive1 test
Spondyloenchondrodysplasia with immune dysregulation2 tests
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1 test
Spondyloepimetaphyseal dysplasia with multiple dislocations1 test
Spondyloepimetaphyseal dysplasia, Maroteaux type4 tests
Spondyloepimetaphyseal dysplasia, matrilin-3 type1 test
Spondyloepimetaphyseal dysplasia, Missouri type1 test
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome2 tests
Spondyloepiphyseal dysplasia congenita2 tests
Spondyloepiphyseal dysplasia tarda2 tests
Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
Spondyloepiphyseal dysplasia with metatarsal shortening1 test
Spondylometaphyseal dysplasia1 test
Spondylometaphyseal dysplasia, Kozlowski type3 tests
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome1 test
Spondyloperipheral dysplasia1 test
Spongiform encephalopathy with neuropsychiatric features1 test
Spongy degeneration of central nervous system6 tests
Squamous cell carcinoma of the head and neck1 test
SRD5A3-congenital disorder of glycosylation2 tests
Stargardt disease1 test
Stargardt disease 34 tests
Stargardt disease 42 tests
STAT3-related early-onset multisystem autoimmune disease1 test
Steinert myotonic dystrophy syndrome1 test
Sterile multifocal osteomyelitis with periostitis and pustulosis1 test
Sterol carrier protein 2 deficiency2 tests
Stickler syndrome2 tests
Stickler syndrome type 13 tests
Stickler syndrome type 22 tests
Stickler syndrome, type 43 tests
Stickler syndrome, type 53 tests
Stickler syndrome, type I, nonsyndromic ocular1 test
STT3A-congenital disorder of glycosylation2 tests
STT3B-congenital disorder of glycosylation2 tests
Sturge-Weber syndrome2 tests
Stuve-Wiedemann syndrome2 tests
Succinate-semialdehyde dehydrogenase deficiency1 test
Sulfite oxidase deficiency1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A3 tests
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C3 tests
Supravalvar aortic stenosis1 test
Surfactant metabolism dysfunction, pulmonary, 13 tests
Surfactant metabolism dysfunction, pulmonary, 21 test
Surfactant metabolism dysfunction, pulmonary, 41 test
Susceptibility to respiratory infections associated with CD8alpha chain mutation1 test
Symmetrical dyschromatosis of extremities4 tests
Symphalangism-brachydactyly syndrome2 tests
Syndactyly type 32 tests
Syndactyly type 51 test
Syndactyly-telecanthus-anogenital and renal malformations syndrome2 tests
Syndromic microphthalmia type 52 tests
Syndromic multisystem autoimmune disease due to ITCH deficiency1 test
Syndromic X-linked intellectual disability Hedera type1 test
Syndromic X-linked intellectual disability Najm type3 tests
Syndromic X-linked intellectual disability Snyder type1 test
Synpolydactyly type 11 test
Systemic lupus erythematosus4 tests
Systemic mast cell disease1 test
TARDBP-related frontotemporal dementia5 tests
TARP syndrome2 tests
Tay-Sachs disease6 tests
Tay-Sachs disease, B variant, adult form5 tests
TCR-alpha-beta-positive T-cell deficiency1 test
TCTN2-Related Joubert Syndrome4 tests
Telangiectasia, hereditary hemorrhagic, type 12 tests
Telangiectasia, hereditary hemorrhagic, type 22 tests
Terminal osseous dysplasia-pigmentary defects syndrome1 test
Tetralogy of Fallot5 tests
Thanatophoric dysplasia type 12 tests
Thanatophoric dysplasia, type 22 tests
Thrombocythemia 21 test
Thrombocythemia 31 test
Thrombocytopenia 11 test
Thrombocytopenia 21 test
Thrombocytopenia 51 test
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia1 test
Thrombomodulin-related bleeding disorder1 test
Thrombophilia due to activated protein C resistance1 test
Thrombophilia due to protein C deficiency, autosomal dominant1 test
Thrombophilia due to protein C deficiency, autosomal recessive1 test
Thrombophilia due to thrombin defect2 tests
Thyroglobulin synthesis defect1 test
Thyroid dyshormonogenesis 11 test
Thyroid dyshormonogenesis 61 test
Thyroid gland carcinoma1 test
Thyroid hormone resistance, generalized, autosomal dominant1 test
Thyroid hormone resistance, generalized, autosomal recessive1 test
Thyrotoxic periodic paralysis, susceptibility to, 11 test
Thyrotoxic periodic paralysis, susceptibility to, 21 test
Thyrotoxic periodic paralysis, susceptibility to, 31 test
Tibial muscular dystrophy2 tests
Tietz syndrome1 test
Timothy syndrome1 test
TMEM165-congenital disorder of glycosylation1 test
TNF receptor-associated periodic fever syndrome (TRAPS)2 tests
Tooth agenesis, selective, 11 test
Torsion dystonia 45 tests
Torsion dystonia 63 tests
Townes-Brocks syndrome 12 tests
Transcobalamin II deficiency2 tests
Transposition of the great arteries, dextro-looped1 test
Treacher Collins syndrome1 test
Treacher Collins syndrome 11 test
Treacher Collins syndrome 21 test
Tremor, hereditary essential, 41 test
Trichorhinophalangeal dysplasia type I2 tests
Trichorhinophalangeal syndrome, type III2 tests
Trichothiodystrophy 1, photosensitive5 tests
Trichothiodystrophy 4, nonphotosensitive1 test
Triglyceride storage disease with ichthyosis2 tests
Trigonocephaly 11 test
Trigonocephaly 21 test
Triphalangeal thumb-polysyndactyly syndrome1 test
Tropical pancreatitis1 test
Troyer syndrome4 tests
Trypsinogen deficiency1 test
Tuberous sclerosis 13 tests
Tuberous Sclerosis 101 test
Tuberous Sclerosis 111 test
Tuberous Sclerosis 121 test
Tuberous Sclerosis 131 test
Tuberous Sclerosis 141 test
Tuberous Sclerosis 151 test
Tuberous Sclerosis 161 test
Tuberous Sclerosis 171 test
Tuberous Sclerosis 181 test
Tuberous sclerosis 23 tests
Tuberous Sclerosis 31 test
Tuberous Sclerosis 41 test
Tuberous Sclerosis 51 test
Tuberous Sclerosis 61 test
Tuberous Sclerosis 71 test
Tuberous Sclerosis 81 test
Tuberous Sclerosis 91 test
Tuberous sclerosis syndrome1 test
Tumoral calcinosis, hyperphosphatemic, familial, 11 test
TWIST1-related craniosynostosis1 test
Type 1 diabetes mellitus 201 test
Type 2 diabetes mellitus2 tests
Type A2 brachydactyly1 test
Tyrosinase-negative oculocutaneous albinism2 tests
Tyrosinase-positive oculocutaneous albinism2 tests
Tyrosinemia type I1 test
Ullrich congenital muscular dystrophy 1A2 tests
Ulnar-mammary syndrome2 tests
Unverricht-Lundborg syndrome4 tests
Upshaw-Schulman syndrome2 tests
Usher syndrome type 11 test
Usher syndrome type 1B1 test
Usher syndrome type 1C1 test
Usher syndrome type 1D1 test
Usher syndrome type 1E1 test
Usher syndrome type 1F1 test
Usher syndrome type 1G1 test
Usher syndrome type 1H1 test
Usher syndrome type 1J1 test
Usher syndrome type 1K1 test
Usher syndrome type 21 test
Usher syndrome type 2A2 tests
Usher syndrome type 2C1 test
Usher syndrome type 2D2 tests
Usher syndrome type 32 tests
Usher syndrome type 3B1 test
UV-induced skin damage, susceptibility to1 test
UV-sensitive syndrome 11 test
UV-sensitive syndrome 21 test
VACTERL with hydrocephalus1 test
Van Buchem disease type 21 test
Van der Woude syndrome 11 test
Vanishing white matter disease3 tests
Velocardiofacial syndrome1 test
Ventricular fibrillation, paroxysmal familial, type 11 test
Ventricular septal defect 11 test
Ventricular septal defect 32 tests
Visceral heterotaxy1 test
Visceral myopathy 11 test
Vitamin D-dependent rickets type II with alopecia1 test
Vitamin D-dependent rickets, type 11 test
Vitelliform macular dystrophy 22 tests
Von Hippel-Lindau syndrome2 tests
von Willebrand disease type 11 test
von Willebrand disease type 21 test
von Willebrand disease type 31 test
Waardenburg syndrome type 11 test
Waardenburg syndrome type 21 test
Waardenburg syndrome type 2A2 tests
Waardenburg syndrome type 2B1 test
Waardenburg syndrome type 2C1 test
Waardenburg syndrome type 2D1 test
Waardenburg syndrome type 2E2 tests
Waardenburg syndrome type 31 test
Waardenburg syndrome type 4A1 test
Waardenburg syndrome type 4B1 test
Waardenburg syndrome type 4C2 tests
Wagner syndrome2 tests
Warburg micro syndrome 14 tests
Warburg micro syndrome 23 tests
Warburg micro syndrome 32 tests
Warts, hypogammaglobulinemia, infections, and myelokathexis2 tests
Weaver syndrome2 tests
Welander distal myopathy3 tests
Werner syndrome1 test
Wieacker-Wolff syndrome1 test
Wiedemann-Steiner syndrome1 test
Williams syndrome1 test
Wilson disease4 tests
Wilson-Turner syndrome1 test
Wiskott-Aldrich syndrome2 tests
Wolcott-Rallison dysplasia1 test
Wolfram syndrome1 test
Wolfram syndrome 11 test
Wolfram Syndrome-Like Disease1 test
Wolfram-like syndrome1 test
Woodhouse-Sakati syndrome1 test
Woolly hair-skin fragility syndrome1 test
Wooly hair-palmoplantar keratoderma syndrome2 tests
Worth disease1 test
X-linked agammaglobulinemia1 test
X-linked Alport syndrome1 test
X-linked chondrodysplasia punctata 12 tests
X-linked complicated corpus callosum dysgenesis1 test
X-linked cone-rod dystrophy 11 test
X-linked cone-rod dystrophy 31 test
X-linked distal spinal muscular atrophy type 31 test
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia2 tests
X-linked dystonia-parkinsonism3 tests
X-linked Emery-Dreifuss muscular dystrophy1 test
X-linked erythropoietic protoporphyria1 test
X-linked hydrocephalus syndrome1 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia1 test
X-linked intellectual disability with marfanoid habitus1 test
X-linked intellectual disability-cerebellar hypoplasia syndrome1 test
X-linked intellectual disability-psychosis-macroorchidism syndrome1 test
X-linked lissencephaly with abnormal genitalia3 tests
X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
X-linked lymphoproliferative disease due to XIAP deficiency1 test
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency1 test
X-linked myopathy with excessive autophagy1 test
X-linked myopathy with postural muscle atrophy2 tests
X-linked Opitz G/BBB syndrome1 test
X-linked parkinsonism-spasticity syndrome1 test
X-linked scapuloperoneal muscular dystrophy1 test
X-linked severe combined immunodeficiency1 test
X-linked severe congenital neutropenia1 test
X-linked sideroblastic anemia 11 test
X-linked sideroblastic anemia with ataxia2 tests
Xeroderma pigmentosum4 tests
Xeroderma pigmentosum group A4 tests
Xeroderma pigmentosum group B4 tests
Xeroderma pigmentosum variant type3 tests
Xeroderma pigmentosum, group C4 tests
Xeroderma pigmentosum, group D6 tests
Xeroderma pigmentosum, group E3 tests
Xeroderma pigmentosum, group F5 tests
Xeroderma pigmentosum, group G5 tests
XFE progeroid syndrome1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Custom Sequence Analysis
Carrier testing
Genetic counseling
Mutation Confirmation
Whole Exome Sequencing

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 99D2130225, Expiration date: 2025-06-20
CAP, Number: 8848535, Expiration date: 2026-03-04
ISO15189, Number: D-ML-13206-01-00, Expiration date: 2027-02-24

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.